Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Study Overview
=================
Brief Summary
-----------------
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.

Official Title
-----------------
Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Conditions
-----------------
Duchenne Muscular Dystrophy

Intervention / Treatment
-----------------
* Diagnostic Test: MLPA for duchenne


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: age of onset between 3- and 18-year-old typical clinical manifestation of Duchenne muscular dystrophy clinical manifestation confirmed by specific biochemical analysis or by genetic testing who presented to pediatric department and neurology outpatient clinic during the period of study. Exclusion Criteria: children with another congenital muscular dystrophy children with other types of myopathies presence of CNS disorders such as brain insult & spinal muscular atrophy female gender

Ages Eligible for Study
-----------------
Minimum Age: 3 Years
Maximum Age: 18 Years

Sexes Eligible for Study
-----------------
Male

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Screening
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: ambulant patient with DMD<br>patient that walk alone or with minor assist | Diagnostic Test: MLPA for duchenne<br>* MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up<br>* Other names: echocardiography , MRI brain , IQ test;|
| Active Comparator: non ambulant patient with DMD<br>patient need wheel chair | Diagnostic Test: MLPA for duchenne<br>* MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up<br>* Other names: echocardiography , MRI brain , IQ test;|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | 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 |