Other Muscular Dystrophies Flashcards
1
Q
What is beckers muscular dystrophy?
A
A X-linked recessive disorder similar to DMD but the dystrophin gene is less severely affected with some function still
2
Q
How does BMD present?
A
- A similar presentation to DMD but symptoms only start later, often after 10 years old
- The clinical course is less predictable with some patients needing wheelchairs and others being able to walk into their adulthood
3
Q
What is myotonic dystrophy?
A
A genetic condition which usually appears in adulthood
4
Q
How does myotonic dystrophy present?
A
- Progressive muscle wasting and weakness
- Prolonged muscle contractions
- Often affects the smaller muscles first e.g. face, jaw and neck
- Dysphagia
- Cataracts also common
- Cardiac arrhythmias also common
5
Q
How is myotonic dystrophy managed?
A
- Regular cardiac monitoring
- Life expectancy can vary between individuals
6
Q
What is facioscapulohumeral md?
A
- Presents in childhood with weakness around face, shoulders and arms
- Sleep with eyes slightly open and unable to purse lips
7
Q
What is oculopharyngeal md?
A
- Presents in late adulthood with weakness of ocular muscles and pharynx
- Patients have ptosis, restricted eye movement and swallowing difficulty
