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Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ambulant patient with DMD | Active Comparator | patient that walk alone or with minor assist |
|
| non ambulant patient with DMD | Active Comparator | patient need wheel chair |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MLPA for duchenne | Diagnostic Test | MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up |
|
| Measure | Description | Time Frame |
|---|---|---|
| change in dystrophine gene mutation | MLPA test | within six months |
| change in MRI findings in DMX patient from normal | by MRI brain | within six months |
| change in cardiac function in DMD patient | by Echocardiography to detect EF, FS | within six months |
| change in thyroid function in DMD patient | by thyroid function test | within six months |
| change in cognitive function in DMD patients | by Stanford IQ test | within six months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| nehal s abdel magoud, assistant lecturer | Contact | 01091666230 | nehal.abdelmawgoud@med.sohag.edu.eg | |
| abdel rahim A sadek, professor | Contact | 01065067057 | abdelreheam_sadek@med.sohag.edu.eg |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Sohag University Hospital | Sohag | Egypt |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29395989 | Background | Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3. | |
| 29395990 |
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| Type | Date | Date Unknown |
|---|---|---|
| Release | Jan 17, 2024 | |
| Reset | Jul 19, 2024 |
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| Release Date | Unrelease Date | Unrelease Date Unknown | Reset Date | MCP Release Number |
|---|---|---|---|---|
| Jan 17, 2024 | Jul 19, 2024 |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| ID | Term |
|---|---|
| D013960 | Thyroid Function Tests |
| D004576 | Electromyography |
| D009431 | Neural Conduction |
| D004452 | Echocardiography |
| ID | Term |
|---|---|
| D003940 | Diagnostic Techniques, Endocrine |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D004568 | Electrodiagnosis |
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|
| Background |
| Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3. |
| 24135430 | Background | Giliberto F, Radic CP, Luce L, Ferreiro V, de Brasi C, Szijan I. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. J Neurol Sci. 2014 Jan 15;336(1-2):36-41. doi: 10.1016/j.jns.2013.09.036. Epub 2013 Oct 5. |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D009213 | Myography |
| D055724 | Electrophysiological Phenomena |
| D010829 | Physiological Phenomena |
| D009424 | Nervous System Physiological Phenomena |
| D055687 | Musculoskeletal and Neural Physiological Phenomena |
| D057791 | Cardiac Imaging Techniques |
| D003952 | Diagnostic Imaging |
| D014463 | Ultrasonography |
| D006334 | Heart Function Tests |
| D003935 | Diagnostic Techniques, Cardiovascular |