Becker muscular dystrophy
Genetic muscle disorder / From Wikipedia, the free encyclopedia
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Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy.[5][3] The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity.[6] Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions.[4] and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early.[7][8]
Becker muscular dystrophy | |
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Other names | Benign pseudohypertrophic muscular dystrophy[1] |
X-linked recessive is the manner in which this condition is inherited | |
Specialty | Neurology |
Symptoms | Severe upper extremity muscle weakness,[2] Toe-walking[3] |
Causes | Mutations in DMD gene[4] |
Diagnostic method | Neurological exam, muscle exam[3] |
Treatment | No current cure, Physical therapy [3] |
While there is no known cure, management strategies such as physical therapy, braces, and corrective surgery may alleviate symptoms.[9] Assisted ventilation may be required in those with weakness of breathing muscles.[6] Several drugs designed to address the root cause are currently available including gene therapy (Elevidys).[6]
Other medications used include glucocorticoids (Deflazacort, Vamorolone); calcium channel blockers (Diltiazem); to slow skeletal and cardiac muscle degeneration, anticonvulsants to control seizures and some muscle activity, and Histone deacetylase inhibitors (Givinostat) to delay damage to dying muscle cells.[9][6] These patients do not require antisense drugs (Ataluren, Eteplirsen etc.) as certain percentage of dystrophin is already expressed.[6]