Muscular Dystrophies

(Myotonic Dystrophy, DMD- Duchenne Muscular Dystrophy, Becker's)

Exam Cram

Muscular Dystrophy refers to a collection of genetic diseases characterised by impaired skeletal muscle function, most commonly caused by myotonic dystrophy, Duchenne's and Becker's
Presentation: progressive muscle weakness from an early age
Diagnosis: usually made by genetic testing +- EMG or muscle biopsy (in context of clinical signs)
Management: MDT- Consultant Neurologist, Genetics, PT- mobility aid, orthotics- joint support, OT- home adaptations, SW- POC, monitor for cardiac and respiratory complications

muscular dystrophy presentation:
- - Severe weakness in childhood, wheelchair by 20s
  - Cardiomyopathy & intellectual disability
Becker's muscular dystrophy presentation:
- - Milder onset in teenage years
  - Normal cognition
Management:
- - Yearly ECGs- assess for atrial arrhythmias and LVSD

Page written in 2024, updated 2026.

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