Muscular dystrophy Flashcards
1
Q
What is Muscular dystrophy?
A
A progressive muscle weakening disorder
Genetic inborn error in metabolism
2
Q
Signs and symptoms of MD?
A
Progressive muscle wasting Poor balance Calf deformation Atrophy Scoliosis Waddling gait Freq. falls
3
Q
Pathophysiology of MD:
A
- Lack of, or defective dystrophin leads to
myofibre necrosis
4
Q
Describe Duchenne’s MD
A
Boys only
No dystrophin production
Manifests when they begin to walk, unable to walk by age 12, can die early
20s, some live into their 40s
Lower limb proximal-distal gradient
Toe walking (compensation to weak knee extensors)
5
Q
Describe Becker’s MD
A
Milder form of Duchenne’s
Reduced dystrophin production
Boys only
6
Q
Decribe Limb-girdle MD
A
Hip and shoulder muscle weakness
Wheelchair bound in 20 years
7
Q
Facioscapulohumeral MD
A
Autosomal dominant (boys and girls) Manifests in mid to late teens Facial and shoulder muscle weakness May include abdominal muscles Usually very slow to progress
8
Q
Exercise and MD:
A
Exercise has no adverse effects
