FOR INFORMATION AND ADVICE CONTACT:

 SDDH Info Center – sddh@zg.t-com.hr

Documentation and the right to an internship with an increased duration

Dear Sirs, I have suffered from muscular dystrophy since I was 4 years old (Emery-Dreifuss) and have been employed since 2012. After checking the Act on Extended Insurance Years, I found out that I am entitled to a benefit based on my diagnosis. I am registered as disabled with the Croatian Employment Service and in order to exercise my right to a benefit, I must submit an Application to the Croatian Pension Insurance Institute to determine my right to an extended period of service. In addition to the Application, I am interested in what documentation I need to submit to the Croatian Pension Insurance Institute. I am also interested in whether, if I exercise my right to an extended period of service and receive a decision, will my previous work experience that I had before the Application was approved be counted towards my right to an extended period of service, or will it only be counted after the decision on the right to an extended period of service? Once I have acquired the right to an extended period of service, will I have to repeat it in the future and resubmit a request to the Croatian Pension Insurance Institute to determine my right to an extended period of service? Thank you in advance.

Dear Sir/Madam,

In order to exercise the right to an insurance period with an increased duration, you must submit claim The Croatian Pension Insurance Institute (HZMO) and attach a copy of your ID card and medical documentation to the request. The request is submitted to the HZMO regional office according to your place of residence. The status of the insured person - a person with a disability is determined by a decision of the HZMO based on the findings and opinion of the Institute for Expertise, Professional Rehabilitation and Employment of Persons with Disabilities (ZOSI). Given the diagnosis, resubmitting the request will not be necessary, but the HZMO decision should also state in which case the request for recognition of rights should be repeated and instructions in the event of any changes. Insurance years can be recognized retroactively, the HZMO decision states the date from which the insurance years with an increased duration are recognized, and the person must have the status of a person with a disability recognized by the HZMO.

The right to inpatient physiotherapy for myasthenia gravis

Respected,
My mother has suffered from myasthenia gravis for 18 years and this year she was denied inpatient physical therapy.
I wonder why her diagnosis is wrong?
Thanks in advance,
Joseph

Dear,

In myasthenia gravis, the motor deficit or muscle weakness is not permanent, but fluctuates in intensity, and worsens after exertion and physical activity. Therefore, myasthenia gravis is not an indication for inpatient physical therapy, on the contrary, inadequate physical therapy or forced exercise can worsen myasthenia.

As you know, myasthenia gravis is successfully treated with appropriate medications. If physical therapy is necessary due to other associated diseases, it should be carried out with caution and adapted to the person with myasthenia gravis.

Kind regards,
Dr. Davorka Vranješ

Vaccination in myasthenia gravis accompanied by diabetes

Dear Sirs!

I am 65 years old..In addition to type 2 diabetes, which I keep under control with therapy, I was diagnosed with Myasthenia gravis (ocular type) 5 years ago..For therapy, I take Myasthenon and corticosteroids, as well as Emanera. Otherwise, I feel quite well compared to the beginning of the disease, except for the cramps in the muscles of my arms and legs that occur occasionally.. Considering that I did not receive an answer to the question I asked my doctor (neurologist) regarding the Covid 19 vaccination, but he leaves that decision solely to me, I am in a dilemma what to do??! I thank you in advance in the hope that you will help me find an adequate answer!

Dear,

Myasthenia gravis is not a contraindication for vaccination against Covid 19. In fact, vaccination is recommended for people with myasthenia, and especially for you, given that you suffer from diabetes, which is one of the risk factors for developing more severe forms of Covid 19 infection. Given that you suffer from the ocular form of myasthenia, I assume that you are taking low doses of corticosteroids. People who take higher doses of immunosuppressive therapy - corticosteroids may have a weaker response to the vaccine, i.e. create a lower level of antibodies, and are recommended a third dose of the vaccine somewhat earlier. I recommend that you consult with your neurologist, given the occurrence of cramps in the muscles of the limbs, you may need to gradually reduce the dose of Mestinon.

Kind regards, Dr. Davorka Vranješ

Personal disability benefit for myasthenia gravis

Respect,

I'm Ivona, I'm 25 years old. I was diagnosed with myasthenia gravis. Two months ago I also had surgery for a tumor on my thymus. I have major problems with fatigue and walking. I'm wondering if it's possible to get disability benefits for this diagnosis and where to even start.

Thanks.

Dear,

Myasthenia gravis is an autoimmune disease in which the symptoms of the disease fluctuate in intensity, and today it can be successfully treated. In some people it occurs as a paraneoplastic syndrome with thymus – most often a benign tumor of the thymus (breast gland), which as you say is probably the case with you. Otherwise, in young people, thymectomy (removal of the thymus) is performed even when there is no tumor as a therapeutic procedure. After removal of the thymus tumor with drug therapy (Mestinon and corticosteroids) which must be continued, there is a gradual improvement or gradual reduction of myasthenic symptoms and signs. I assume that you are taking therapy – Mestinon and corticosteroids (Decortin or Medrol) in the appropriate dose as recommended by your neurologist, according to the intensity of the symptoms. The dose of the drugs is adjusted to the symptoms of the disease, and in the case of a more severe deterioration, certain immunosuppressive procedures are applied, such as the use of plasmapheresis (therapeutic plasma exchange) or iv. immunoglobulins. With regular monitoring and individually tailored therapy, it is expected that the patient will gradually recover sufficiently and be able to work, that is, that there are no significant limitations in everyday life. You should be patient, consult your neurologist regularly and take the recommended therapy. The two-month period after the removal of a thymus tumor (thymoma) is short, and improvement usually occurs very gradually. Only a small number of patients are refractory to therapy after longer treatment, that is, despite treatment, satisfactory improvement is not achieved. In these cases, the degree of physical impairment (disability) is assessed, which is carried out by the Croatian Pension Insurance Institute according to the findings and opinion of the authorized Council of Experts.

Kind regards, Dr Davorka Vranješ

Vaccination against COVID-19 in myasthenia gravis

Dear Sir/Madam,

I found your contact on the internet. I was diagnosed with myasthenia gravis in 2007, I had a thymectomy in 2009 and I have been well ever since, thank God. I guess the disease is in remission.

I'm curious if you've had any experiences with myasthenia gravis who got coronavirus? Is it recommended to get vaccinated and if so, do you have any recommendations for which vaccines to get?

I am 36 years old. Thanks in advance for your help!

Hello, Christina

Dear,

Myasthenia gravis is an autoimmune disease and any viral or bacterial infection can worsen it, including infection with the virus that causes Covid-19. Therefore, patients with myasthenia gravis are more likely to develop a more severe form of COVID-19 due to comorbidity, compared to the healthy population. I do not know the exact official data on the outcome and course of COVID-19 infection in patients with myasthenia gravis. Three of our patients who are otherwise being treated for myasthenia, who contracted corona, had a somewhat more severe course of the disease that required hospital treatment, but the outcome of the disease was ultimately good.

Patients with myasthenia gravis can be vaccinated, or vaccination against the COVID-19 virus is recommended if the clinical picture is stable, or if they are not in acute exacerbation of the underlying disease. Considering that you state that you are in remission for several years, there is no contraindication for vaccination, or the likelihood of developing side effects in you does not differ from the rest of the population. Patients with myasthenia who take higher doses of immunosuppressive therapy (corticosteroids more than 30mg per day with another immunosuppressive therapy, e.g. Imuran or mycophenolate mofetil) are more likely not to develop antibodies after vaccination, i.e. for the vaccination to be ineffective.

Given your age (36 years), vaccination with mRNA vaccines such as Pfizer or Moderna is recommended.

Kind regards, Prim Dr Davorka Vranješ

Myasthenia gravis negative - disability?

Dear Sirs, am I entitled to disability? I have been taking Mestinon 3×1 therapy for 4 years, with respect, Lp

Dear,
The fact that someone is taking Mestinon (pyridostigmine bromide) in a low dose – 3×1 tbl, probably 60 mg, absolutely does not in itself mean disability. Myasthenia gravis is an autoimmune disease in which the signs of the disease oscillate in intensity, and today it can be successfully treated. Often, over time, the disease goes into remission, i.e., a gradual improvement and reduction of myasthenic symptoms. The drug Mestinon as a monotherapy is given only for mild forms of the disease, while most patients must also take immunosuppressive therapy, most often corticosteroids, in addition to Mestinon. The dose is adjusted to the symptoms and symptoms of the disease, and with adequate therapy, it is expected that the patient will be able to work, i.e., that there are no significant limitations in everyday life. Only a small number of patients are refractory to therapy after prolonged treatment, i.e., treatment fails to achieve satisfactory improvement. In these cases, permanent disability or the degree of disability may be assessed.

Kind regards, Davorka Vranješ

Dear Sirs, please if you can help me and give me some information. My cousin just told me that her son was diagnosed with spinal muscular atrophy and the doctors advised her to inform her close relatives and to get tested to see if we are carriers.

Dear,
Genetic testing, or DNA analysis for spinal muscular atrophy, or determination of the SMN1 and SMN2 genes, is performed at the Department of Laboratory Diagnostics of the Clinical Hospital Zagreb (Rebro) Kišpatićeva 12 – Laboratory for Molecular Diagnostics. The test is performed on blood based on a referral from a general practitioner.

Kind regards, Davorka Vranješ

Heredity of myotonic dystrophy

Dear Sir/Madam,

My father had Steiner's myotonic dystrophy and died of cardiac arrest at the age of 36. My uncle also has a mild form of it. Namely, I'm curious about the likelihood that I inherited the disease. I had a check-up with a neurologist where they did tests such as suddenly opening my arms, eyes, squatting, etc. The doctor didn't seem concerned, but the older I get and the closer I get to planning a child, the more concerned I am. I don't have any symptoms, but recently I've started to feel a slight weakness in my right hand, although I don't even know if I'm imagining it anymore.

I plan to have another test, a blood test.

Thanks in advance for your answer.

Dear,

Myotonic dystrophy type I or M. Steinart is a multisystem disease caused by a mutation in the DMPK gene located on chromosome 19. It is inherited in an autosomal dominant manner, which means that the probability of a child inheriting the disease from an affected parent is 50%. The disease can have different expressions, which means that the symptoms of the disease vary in both the time of appearance of the first signs of the disease, the severity of the symptoms and the number of organs affected, i.e. the clinical picture can be very mild, practically asymptomatic, or severe.

The disease is diagnosed based on anamnestic data, neurological examination, EMNG analysis that shows some signs typical for this disease, and in almost 90% cases it is confirmed by genetic analysis - DNA analysis. DNA analysis for myotonic dystrophy type I is done from blood and can be performed at the Clinical Institute for Laboratory Diagnostics, KBC Zagreb (Rebro) Kišpatićeva 12 Laboratory for Molecular Diagnostics by referral from a general practitioner.

You can find ordering instructions at website Clinical Hospital Center Zagreb – patient booking.

I'm curious how much a 6-year-old child with Duchenne muscular dystrophy is entitled to at the spa.

In order to conduct initial hospital medical rehabilitation, the insured person is granted a stay in a contracted special hospital for medical rehabilitation, as a rule, for a period of 21 days, and the contracted special hospital for medical rehabilitation is obliged to conduct hospital medical rehabilitation for the insured person daily throughout the working week.

Exceptionally, at the proposal of the department doctor of the contracted special hospital for medical rehabilitation, the authorized doctor of the Institute may approve an extension of the insured person's stay in the special hospital for medical rehabilitation for the purpose of conducting initial hospital medical rehabilitation.

In order to conduct ongoing hospital medical rehabilitation for chronic diseases and conditions, the insured person is granted a stay in a contracted special hospital for medical rehabilitation for a maximum of 21 days, and the contracted special hospital for medical rehabilitation is obliged to conduct hospital medical rehabilitation for the insured person daily throughout the working week.

An insured person may only exercise the right to ongoing hospital medical rehabilitation for the same illness once in the same calendar year.

If you are rejected by the commission, contact us so we can help you with drafting an appeal.

You can see the regulations at http://www.hzzo.hr/wp-content/uploads/2014/04/03_procisceni.pdf

How to exercise the right to assistance and care allowance?

The right to assistance and care allowance is granted to a person who cannot meet their basic living needs on their own and as a result is in dire need of assistance and care from another person in organizing their diet, preparing and eating meals, purchasing groceries, cleaning and tidying up their apartment, dressing and undressing, maintaining personal hygiene and performing other basic living needs. The right to assistance and care allowance may be granted in full (100% of the base amount) or in a reduced amount (70% of the base amount), depending on whether there is an urgent need for assistance and care from another person in full or in a reduced amount. The right to assistance and care allowance is granted by the social welfare center on the day the application is submitted or the procedure is initiated ex officio.

I am currently employed and my personal disability benefit has been suspended. I would like to know if I will have to undergo a new expert assessment when I re-initiate my claim for personal disability benefit?

If the Findings and Opinion of the first-instance expert body is valid, i.e., if the right is permanent, without a date for the control expert assessment, a re-expert assessment should not be conducted. However, if there are any new findings or new circumstances, depending on the case, it is possible that a re-expert assessment will be required.

In what situations am I entitled to one-time financial assistance?

A one-time benefit is granted to a single person or a household that, due to current financial difficulties, is unable to meet basic living needs due to the birth or education of a child, illness or death of a family member, natural disasters, and the like.

A one-time fee may be granted:
– for the purchase of basic household items or the purchase of necessary clothing and footwear if there is no possibility of securing the purchase of necessary household items and clothing and footwear in cooperation with humanitarian organizations
– to a beneficiary of the right to placement in a foster family who is a primary or secondary school student for the purchase of compulsory school textbooks (if this right is not exercised on another basis)
– to users of temporary accommodation in crisis situations for reimbursement of transportation costs to their place of residence, their own or foster family, a social welfare home, another service provider or another institution
– exceptionally, a one-time compensation may be granted to users of accommodation services, or organized housing, in the event that the need for which the one-time compensation is claimed is not satisfied within the framework of the accommodation service, organized housing or compensation received on another basis.

A one-time compensation for funeral expenses is granted for the funeral of a person who does not have a legal or contractual supporter under a lifelong or life-long support contract, as follows:
– a person who is a beneficiary of the guaranteed minimum benefit at the time of death or a member of a household who is a beneficiary of the guaranteed minimum benefit and
- of a person who, at the time of death, is a beneficiary of accommodation or organized housing.

The Center for Social Welfare will request the reimbursement of funeral expenses from his heirs for a person who has income or assets.

Diagnosis of ALS??

Good afternoon

I'm 57 years old and thanks to the extra time I've now got because nothing I need for work is working right now, so I'm not working either, and thanks to the internet, I suspect I have symptoms of amyotrophic lateral sclerosis.

I suspect this disease because of the symptoms that appeared a few months ago. First, I lost strength and had pain in my left elbow, but that went away and now the sensations are less, and now I have no strength in my right forearm and I have more severe pain again with or without pressure on the outside of my right elbow; the pain sometimes extends up to 10 cm and into my right upper arm. I thought it might be nerve inflammation from working with a computer mouse, but since I don't use the mouse with my left hand, that's out of the question.

I kindly ask you to recommend a quality neurologist so that I can start testing when the health situation returns to normal.

Dear,

The symptoms you describe, especially elbow pain, are not typical of amyotrophic lateral sclerosis. If your doctor suspects this disease, a neurological examination can be performed at any clinical or general hospital. Based on your medical history and examination, the neurologist will refer you for additional treatment if necessary. If you live in Zagreb, you can make an appointment at the Neurology Clinic of the Zagreb Hospital Center, Rebro, Center for Neuromuscular Diseases, with a referral from a general practitioner and previous medical documentation: in person, by fax 24 20 992 or by e-mail predbiljezbe.emg.nrl@kbc-zagreb.hr

Information by phone: 2376 408 (weekdays from 8 am to 9 am and from 1:30 pm to 2:30 pm)

I have three children with DMD, I am a parent caregiver, can both parents exercise this same right?

If there are two or more children with developmental disabilities or people with disabilities in a family, both parents can acquire the status of caregiver.

Dear Sir/Madam, I am 58 years old, and was diagnosed with “amyiotrophio spinalis gravis G12” about 40 years ago. I have a daughter who recently got married and is planning a family. I am concerned about the possibility of inheritance and therefore I am interested in how the disease is transmitted and where

Dear,
Spinal muscular atrophy //Amyothrophia spinalis/ is a hereditary degenerative disease of the motor neurons located in the anterior horn of the spinal cord. It is the result of a deletion or mutation of the SMN1 gene on chromosome 5. This is the gene that enables the survival of motor neurons. It is inherited in an autosomal recessive manner, which means that in order to develop the disease, a person must receive two damaged ("diseased") genes from both parents - i.e. if both parents are carriers of the disease.
If you suffer from spinal muscular atrophy G12, your daughter is a carrier of one altered (diseased) gene, and the healthy SMN1 gene that she inherited from her father "protects" her from the onset of the disease. Her descendants have a statistical 50% chance of inheriting a healthy SMN1 gene or an altered SMN1 gene. If they receive a healthy gene from their father, the disease will not develop, as it did in your daughter, but they can be carriers. Since the incidence of the disease is 1 in 10,000 in our population, or 1 in 50 people is a carrier of the altered gene, and your daughter and her husband want to know the possible possibility of the disease occurring in their descendants, they can do a DNA analysis, or test the SMN1 and SMN2 genes. It is necessary to do the analysis in both future parents. Testing can be done at the Department of Laboratory Diagnostics of the Zagreb Clinical Hospital Center (Laboratory for Molecular Diagnostics) with an appropriate referral from a general practitioner at the expense of the Croatian Health Insurance Fund.
Healthy children are not tested until they reach adulthood, when they can decide for themselves whether they want to do so.

What is the procedure for obtaining foster parent status?

To exercise the right to the status of a foster parent, the potential beneficiary must submit an application to the competent social welfare centre, which is, as a rule, the social welfare centre in whose area the applicant has his/her permanent residence or temporary residence. The locally competent social welfare centre may also initiate the procedure ex officio based on information from family members, citizens, institutions, associations, religious communities, companies and other legal entities, as well as state and other bodies. The decision on the recognition of the right to the status of a foster parent is issued by the locally competent social welfare centre with the consent of the Ministry of Demography, Family, Youth and Social Policy.

What happens to my personal disability benefit if I get a job and start working?

If a person earns income on any basis, the personal disability benefit is paid less the earned income, i.e. as the difference between the full amount of the personal disability benefit and the average income earned in the three months prior to submitting the application. If the earned income is higher than the amount of the personal disability benefit, the right to the personal disability benefit ceases, i.e. it is suspended.

Dear Sir/Madam, I was planning to apply for the right to the status of a mother as a carer, so I would like to know if these two rights are related to each other (personal disability allowance and carer parent)? I thank you in advance

Dear,
The right to personal disability allowance and the status of a parent carer are not mutually exclusive. The only thing to take into account is that the child is not guaranteed a stay of more than four hours (if he will be at school for more than four hours, then the parent must be with him and provide him with care). They are only interconnected in the sense that for both, the decisive condition is permanent dependence on the care and support of another person.

Dear Sirs, our problem relates to the following. We have submitted a request to the Požega Social Welfare Center for the right to personal disability benefits for our son (he suffers from muscular dystrophy, born in 2007). I am sending the decision on refusal in the attachment, as well as all the documentation we received.

Dear,
The findings and opinion of the first-instance expert body indicate that the boy does not have a severe disability as prescribed by law as a condition for obtaining personal disability benefits. I would like to point out that according to the new expert assessment methodology, the percentage of physical impairment alone is not decisive for obtaining personal disability benefits, but rather the remaining functional ability to independently perform daily activities is considered (people who have 100% % physical impairment do not necessarily have the right to personal disability benefits, it largely depends on how independent the person is in performing daily activities). I therefore recommend that during the new expert assessment, the boy's inability to independently perform daily activities (feeding, hygiene, movement, etc.) be emphasized more strongly because the decision on personal disability benefits depends exclusively on the findings and opinion of the expert. I recommend that the Ministry be provided with a Decision on the right to increased child benefit due to severe disability if this has been achieved.

Dear Sirs, I have a son with Duchenne muscular dystrophy, part 50, he is 5 years and 6 months old. Is there anything new in research into a cure for this disease, and why don't we have a physiotherapist for home exercises at the County Health Center? Thank you.

Dear,

A number of studies have been conducted worldwide to find a treatment option, or rather to stop the progression of the disease and muscle weakness in progressive muscular dystrophy of the Duchenne type. Most of the work is done in experimental research in vitro and on animals, but certain substances are already in phase III or IV of clinical research on patients. The attempt to treat with stem cells did not meet expectations, much hope is placed in gene therapy, or "correcting a gene error", but the problem is the transfer of the plasmid containing the genetic material necessary for the production of a functional protein into the cell (adenovirus vector). The most advanced studies have been conducted, and preparations have been synthesized whose action is based on "skipping the damaged part of the gene" (gene skipping). This allows the synthesis of smaller amounts of defective dystrophin, but even such dystrophin causes a milder variant of muscular dystrophy, or milder muscle weakness, similar to Becker's MD.

For the time being, trials of potential drugs ETEPIRSEN and DRISAPERSEN for exon 51 mutation, ATALUREN for so-called "nonsense mutations" have been approved. Phase III and IV clinical studies are being conducted. The problem is that each gene mutation needs to synthesize a specific potential drug. Research into "skipping" and other "changed" exons (from 47 to 52) is also being conducted. There is great expectation from the so-called replacement therapy, i.e. the administration of dystrophin synthesized by molecular engineering to the patient. You should consult your neuropediatrician who is following the boy about current clinical trials and the possible inclusion of our patients in clinical trials.

I cannot answer the question about the organization and implementation of physiotherapy in home care at the County Health Centers. We neurologists recommend the implementation of physical therapy in home care, but we have no influence on the organization of services at the Health Centers.

Dear all, a few days ago my nephew (my sister's son) was confirmed to have muscular dystrophy (we don't know the type yet, he was tested for Becker's and Duchenne's, the test is positive, but we will know the details in two weeks). I would like to know how and where I can get tested.

Dear NS, DNA analysis for dystrophinopathies (Duchenne and Becker muscular dystrophy) – the question of the patient and the gene carrier can be done at the Department of Laboratory Diagnostics of the University Hospital Center Zagreb, Laboratory for Molecular Genetics. The test can be carried out at the expense of the HHZO – via a regular “red referral” from a general practitioner.

Dear Sir/Madam, please recommend which clinical center and which doctor I should contact to establish an accurate diagnosis if I suspect a neuromuscular disease?

Dear Sir or Madam, a neurological examination and electromyoneurographic treatment can be performed at the Neurology Clinic of the Clinical Hospital Center of Sister Milosrdnica, the Neurology Clinic of KBC Zagreb - Rebro location, the Neurology Clinic of the Sveti Duh Clinical Hospital, the Department of Neurology of the Dubrava Clinical Hospital. Clinical hospital centers in the Republic of Croatia are also: KBC Rijeka, KBC Osijek and KBC Split. All the mentioned KBCs have Neurology Clinics within which there is an EMNG laboratory and specialists trained in the diagnosis of neuromuscular diseases.

Dear Sirs, I was born in 1979, and I have suffered from Charcot Marie Tooth since I was 6 years old. I saw on your website about the drug PXT-3003, I am wondering if there is anything like that drug? Regards

Dear Sirs, PXT-3003 is the code for a drug from PARNEX SAS that is currently in clinical trials (Phase 3) as a potential treatment for Charcot-Marie Tooth disease. The drug is a combination of three ingredients that have long been used for other diseases. It consists of baclofen (this drug has been used under the name Lioresal for many years to treat muscle spasm (muscle stiffness) as a result of brain or spinal cord damage), then naltrexone hydrochloride, which is sometimes used in the treatment of heroin addicts or alcohol addiction, and sorbitol - this is an alcoholic sugar used as an artificial sweetener or glucose substitute for patients with diabetes. The first phase of testing was conducted on cell culture (in vitro) and on transgenic rats that had the PMP 22 gene mutation responsible for the occurrence of M.CMT, and showed improved myelination and recovery of axons (nerve fibers) in these animals. The second phase of clinical testing was conducted on volunteers (80 people) and showed that the preparation was well tolerated, and no significant side effects were recorded. The third phase of clinical testing is underway on a larger number of adult patients with M.Charcot Mariae Tooth. The tests are conducted in France and some other countries according to the principle of double-blind testing - a third of the patients receive the preparation in low dose, a third a higher dose, and a third of patients receive a placebo (neutral preparation). Trials usually last at least two years, and should end in 2017, when the first results are expected to be published. Our Clinic, and I think other clinics in Croatia, are not included in these trials. So we need a little more patience to see if this is really a drug that is effective in patients with M. Charcot Mariae Tooth.

Dear Sir/Madam, I am wondering if I am entitled to a disability pension even though I have no work experience, given that I turned 18 this year and suffer from Duchenne muscular dystrophy?

Dear Sir/Madam, regarding your inquiry, I would like to point out that you are not entitled to a disability pension. Namely, the provision of Article 56 of the Pension Insurance Act stipulates that a person is entitled to a disability pension in the event of loss of working capacity before the age of 30, if he/she has at least one year of service and if this complete loss of working capacity occurred during the employment relationship or within one year after the termination of the employment relationship. However, due to the severity of the disability, you may be entitled to a personal disability allowance (an amount of up to 1,250.00 kn per month) under the Social Welfare Act. An application for a personal disability allowance, if you are not already receiving it, is submitted to the social welfare center.

Dear Sir/Madam, I have a question regarding the diagnosis of muscular dystrophy, more precisely Duchenne's dystrophy. Is molecular-genetic diagnostics justified and to what extent is it used compared to other methods of diagnosis?

Dear Sir, molecular genetic diagnostics, or DNA analysis, is today the basic diagnostic method used to confirm the diagnosis of Duchenne muscular dystrophy. However, before conducting DNA analysis, it is necessary to suspect the disease based on data on the development of the disease (anamnesis and heteroanamnesis - with special attention to the possible occurrence of a similar disease in immediate and extended family members, a detailed clinical examination of the child, elevated CK values in the blood and EMNG analysis). DNA analysis performed on a blood sample proves the existence of a change in the dystrophin gene located on the short arm of the X chromosome. Most often, this is a lack of part of the gene - (deletion). The dystrophin gene is one of the largest genes and consists of 79 exons (parts). DNA analysis is very reliable and confirms the disease in 95% patients. These 5 % patients with Duchenne MD and negative DNA analysis results also have a gene change, but the analysis performed probably did not include the part of the gene (i.e. exons) with the pathological change. Another method that can confirm Duchenne MD is a muscle biopsy with immunohistochemical analysis, which proves the deficiency or complete absence of the dystrophin protein in the muscle fibers. Muscle biopsy is a minor surgical procedure that is certainly more unpleasant for the child than DNA analysis. DNA analysis for Duchenne MD can also be performed in the Laboratory for Molecular Genetics of the Department of Laboratory Diagnostics, KBC Zagreb na Rebro.

Hello, my husband suffers from muscular dystrophy but says that the doctors haven't diagnosed him with what type. He has quite thin arms, meaning he has no muscles in his arms or they are very weak. He also has a waddling gait when he gets up from a sitting position.

Dear Sir, unfortunately I cannot answer your questions since it is not possible to conclude from the information you have provided which form of muscular dystrophy your husband suffers from. Namely, the term muscular dystrophy only means that it is a primary muscle disease. There are four basic groups of muscular dystrophies (dystrophinopathies, girdle muscular dystrophies LG MD, FSH MD, oculopharyngeal MD), each of which has a number of subgroups, but there are also other similar hereditary muscle diseases such as metabolic myopathies, congenital myopathies, etc. Primary motor neuron diseases (spinal myopathies) present with a similar clinical picture of weakness and muscle loss and are often confused with muscular dystrophies. Each of these numerous diseases has its own clinical specificities and a different mode of inheritance (dominant, recessive, X-linked inheritance). Therefore, it is necessary to know the form or subgroup of muscular dystrophy in order to be able to discuss the possible prognosis of the course of the disease and the possible occurrence of the disease in offspring. Given that it is an adult and according to your description of severe damage to the muscles of the hands, it is possible that it is FSH muscular dystrophy, myotonic dystrophy or one of the large group of girdle muscular dystrophies. For a more precise answer, it is necessary to know about the development of the disease, the results of the treatment (especially the CK value and EMNG findings), as well as the current neurological findings or neurological status.

Dear Sirs, I have a question regarding the inheritance of muscular dystrophy. Namely, my husband's brother was sick, so my husband also underwent some tests when he was a child, which determined that he does not carry the gene. We have one child (si

Dear, I cannot answer your question since you did not specify which disease or form of muscular dystrophy your husband's brother suffered from. Namely, the term muscular dystrophy only means that it is a primary muscle disease. There are four basic groups of muscular dystrophies (dystrophinopathies, girdle muscular dystrophy LG MD, FSH MD, oculopharyngeal MD), each of which has a number of subgroups, but there are also other similar hereditary muscle diseases such as metabolic myopathies, congenital myopathies, etc. Primary motor neuron diseases (spinal myopathies) present with a similar clinical picture of muscle weakness and loss and are often confused with muscular dystrophies. Each of these numerous diseases has its own clinical specificities and a different mode of inheritance (dominant, recessive, X-linked inheritance. ) So it is necessary to know the form or subgroup of muscular dystrophy in order to discuss inheritance. If you notice any problems in your son, you should consult a pediatrician or neuropediatrician. Today, the majority of neurologists and neuropediatricians in our country adhere to the rule - starting from the generally accepted human rights that healthy children should not undergo DNA analysis or gene testing for diseases for which there is still no effective treatment or prevention of disease development. When the child grows up, he has the right to decide whether he wants to undergo genetic processing and find out about the possible possibilities of developing the disease in himself or his descendants.

What is the procedure for purchasing a device for non-invasive assisted lung ventilation in patients with neuromuscular disease? Which healthcare institution in the City of Zagreb should I go to for an examination to purchase this device, and what is the procurement procedure?

Dear Sirs, the recommendation for approval and initiation of the procedure for the procurement of a non-invasive mechanical ventilation device at the expense of the HHZO for adult patients is given by a pulmonologist specialist after the treatment and testing of respiratory functions. After neurological treatment, we refer our patients for pulmonary treatment to the Special Hospital for Pulmonary Diseases Rockeffellerova 3 Zagreb (Primary Doctor Alfirević), and for hospitalized patients we cooperate with the Clinic for Pulmonary Diseases Jordanovac (Intensive Care Department.)

What are the results of using Cyclosporine A in the treatment of Urllich collagen 6-related dystrophy? My son Lovre (4.5 months) is going to Rebro in September for treatment for an extremely rare type of muscular dystrophy (Ulllich collagen 6-related). I am interested, since the incidence is 1

Dear Sirs, Cyclosporine A is an immunosuppressive drug and is used in the treatment of some autoimmune diseases, and even more so in people with transplanted organs as an immunosuppressive drug that should prevent organ rejection. Based on the available literature, I learned that studies are being conducted on the use of cyclosporine in collagen VI-related myopathies, namely Urlich's congenital muscular dystrophy and a milder variant of this disorder, Bethlem's myopathy, and they are based on the effect of cyclosporine on the correction of mitochondrial dysfunction, namely on muscle apoptosis. As far as I understand, these are studies (in vitro), i.e. on laboratory-grown muscle cells. (Italy). It is mentioned that pilot studies are also underway. There is no defined answer in the results of the aforementioned studies. Since I am a neurologist, therefore working with a population of adult patients suffering from neuromuscular diseases, I do not know of patients with Urlich's congenital muscular dystrophy, which is a disease of newborns and young children. Your neuropediatrician colleagues from the Clinic for Children's Diseases, University Hospital Zagreb (prof. dr. sc. Nina Barišić and her associates), where your child will be treated, will be able to tell you much more about this, as well as other tests of this disease, and possible new studies.

I'm curious about the impact of SMA type 2 on the heart? Thank you.

SMA type II (Kugelberg Welander) is an intermediate form of SMA that appears at around 18 months of age. Spinal muscular atrophy is a progressive disease in which there is degeneration or deterioration of nerve cells in the anterior horn of the spinal cord, which leads to the inability to transmit stimuli to the muscles of the trunk and limbs, thus the inability to perform movements. The result is the development of muscle weakness and lameness, which later leads to the development of muscle deterioration or atrophy. The heart or heart muscle is not affected in this disease because it is primarily a disease of nerve cells (motor neurons), not muscles. Otherwise, the heart is innervated by another, i.e. the autonomic nervous system.

I have a child with SPINAL MUSCLE ATROPHY (11 years old). I am interested in how the research is progressing and when genetic therapy could be obtained? Thanks.

Many projects and research are being conducted worldwide, both for this and other hereditary neuromuscular diseases, which are carried out on various, mainly animal models (experimental animals), with the aim of shedding light on the pathogenesis and development of these diseases. As a result of the research, results that would be applicable in clinical practice are expected.
It is necessary to emphasize that the path from knowledge about the development of a disease to the idea of a possible cure is long, and the path from the idea of a potential cure to attempting to administer such a cure to a patient is even longer.
Gene therapy for neuromuscular diseases is still in the pre-clinical testing phase (in animal models or experimental animals). There are a number of scientific and ethical problems involved. The problems of gene therapy include, among others, its non-specificity for certain mutations, the problem of transferring genetic material by viruses and their targeting to the target tissue (motor neuron), the host's immune response to the entry of the virus, and a number of others.
A little closer to possible clinical application is the attempt at therapy with antisense oligonucleotides. These are very complicated procedures, and now phase IV preclinical trials are underway in Duchenne muscular dystrophy and SMA. The goal of such treatment should be to convert a severe form of the disease into a milder one at the level of pre-messenger RNA. (e.g. a severe form of juvenile SMA into a milder form similar to the adult form). So gene therapy is still not so near future, and it is important to emphasize that the therapy does NOT restore the lost muscle or motor neuron.

Dear Sirs, I have been diagnosed with the hereditary diagnosis of Marie Charchot Tooth. Please, can you tell me what percentage of the possibility of inheritance to offspring is there? Is there a difference between female and male offspring? Thank you.

Charcot-Marie-Tooth disease (hereditary sensorimotor neuropathy types 1 and 2) is inherited in an autosomal dominant manner, which means that the probability of passing the disease on to offspring is 50%. Inheritance is not gender-specific, and the probability of the disease occurring is equal in male and female offspring.

How to achieve assisted non-invasive ventilation due to respiratory function disorders and breathing problems during the night? Thanks.

Non-invasive assisted ventilation (breathing) is performed using special small devices that, based on increased pressure, "pump" air into the lungs through a mask that is placed and secured with straps over the nose and mouth. Such breathing is usually performed at night, but depending on the degree of weakness of the respiratory muscles in the later stages of the disease, it can also be performed during the day.

Please tell me if there are any recent studies regarding the diagnosis of Marie Charchot Tooth? Thank you in advance.

Many projects and research are underway, both for this and other hereditary neuromuscular diseases, which are carried out on various, mainly animal models (experimental animals) with the aim of shedding light on the pathogenesis and development of these diseases. Results that would be applicable in clinical practice are also expected as a result of the research. Given that in Croatia we are able to perform some of the molecular genetic tests necessary for making this diagnosis, we hope that we will be able to include our patients in possible future clinical research. For now, no clinical research is being conducted in Croatia. It should be emphasized that the path from knowledge about the development of the disease to the idea of a possible cure is long, and the path from the idea of a potential cure to the attempt to apply such a cure to patients is even longer. This path is long and demanding, because at all times the safety and well-being of the patient comes first.

Is the personal disability allowance reduced if I receive an honorarium of HRK 200.00?

If a person earns income on any basis, the personal disability benefit is paid less the earned income, i.e. as the difference between the full amount of the personal disability benefit and the average income earned in the three months prior to submitting the application. If the earned income is higher than the amount of the personal disability benefit, the right to the personal disability benefit ceases, i.e. it is suspended.

Who can claim the right to the status of a foster parent?

The status of a parent caregiver is recognized for one of the parents of a child with developmental disabilities or a person with a disability if they meet one of the following conditions:

– is completely dependent on the help and care of another person because, in order to maintain life, he needs specific care by performing medical and technical procedures for which, according to the doctor's recommendation, the parent is qualified
– is completely immobile and uses orthopedic aids
– has multiple types of severe impairments (physical, intellectual or sensory) that make him/her completely dependent on the help and care of another person to meet basic life needs.

Exceptionally, when the parents of a child with developmental disabilities have died or neither parent lives with the child and does not care for him/her, or lives with the child but is unable to provide the child with the necessary care due to his/her psychophysical condition, the status of caregiver may be recognized by one of the family members with whom the child lives in the family community. If the child lives with one parent, the status of caregiver may also be recognized by his/her spouse or common-law partner.

If there are two or more children with developmental disabilities or people with disabilities in a family, both parents can acquire the status of caregiver.

If a single-parent family has two or more children with developmental disabilities or a person with a disability, the status of caregiver may be recognized, in addition to the parent, also for one of the family members living in the family unit.

What rights can be exercised within the social welfare system for children with developmental disabilities?

The rights in the social welfare system for children and young people with developmental disabilities are:

• allowance for assistance and care,
  • personal disability allowance,
  • compensation until employment,
  • parental care status or caregiver status,
  • social services (first social service (information, identification and initial assessment of needs), counseling and assistance, home help, psychosocial support, early intervention, assistance with inclusion in upbringing and regular education programs (integration), stay, accommodation, organized housing.

In order to exercise these rights, it is necessary to submit a request to the competent social welfare center, in person with the competent professional worker or via a form.

Please suggest a clinic that performs genetic testing for Ulrich myopathy and is there a possibility of co-financing from Hzzo, thank you

Dear Sir/Madam, Urlich's myopathy belongs to the group of congenital muscular dystrophies in which muscle weakness is noticed already at birth. This disorder is also characterized by stiffness and contractures of the knee and elbow joints and hypermobility of the wrists and small joints of the hands. It is caused by mutations in one of the three genes COL6A1, COL6A2 and COL6A3. To confirm the diagnosis, it is necessary to test all three genes. I don't know which clinic abroad specifically deals with and performs DNA testing for Urlich myopathy. I can mention the "Center for Genomic and Transciptomics Ce Gat" from Tubingen, which works on a commercial basis. Gene analyzes are performed there for most neuromuscular diseases, so it is stated that they also test the COL6A1, COL6A2 and COL6A3 genes. CeGaT GmbH Paul-Erlich Str. 28 D-72076 Tubingen Germany tel. +49 7071 565 44 00 www.cegat.com info@cegat.com
As far as I know, the Croatian Health Insurance Fund does not cover the costs of DNA analysis of adult patients abroad. For children (I assume the patient is a child), there may be exceptions. The request must be proposed and justified by a neuropediatrician.