Proximal Myopathy
Examination
On detecting proximal weakness, proceed to test sensation to rule out neuropathic
weakness; skip the cerebellar; waddling gait
If unilateral proximal weakness, think of diabetic amyotrophy (a/w pain and
sensory impairment)
Check the ULs
Acromegaly, Cushing’s
Dupuytren contracture
Dermatomyositis/Polymyositis
Proximal weakness
Check the Face
Eyes for MG
Cushing’s, Acromegaly, Thyroid
Parotids
Presentation
Sir this patient has proximal weakness of the upper and lower limbs that is due to
proximal myopathy.
There is presence of weakness with a power of 4 on the upper and lower limb girdle
muscles. I was able to overcome his abduction of the arms and he has difficulty
standing from a sitting/squatting position. There is presence of a waddling gait.
There is no evidence of any sensory involvement. There is also no fatigability.
There were no features of
Dermatomyositis/polymyositis
Acromegaly/Cushing’s/Thyroid
Chronic ethanol ingestion – Dupuytren and parotidomegaly
Sarcoid – lupus pernio
Cancer – cachexia, clubbed
I would like to take a drug history
Cholesterol lowering drugs
Corticosteroids
Cyclosporine A
Chloroquine
The possible etiologies include:
Congenital
Duchenne’s
Sex linked, young male child, onset 3-4yrs
Pseudohypertrophy of the calves
Proximal weakness – Gower’s sign, usually cannot ambulate by 15yrs
No facial involvement
Low IQ
Dilated cardiomyopathy
Becker’s
Similar but less severe to Duchenne
Can ambulate beyond 15 years
Usually onset 5-15 but maybe 3rd/4th decades
Majority survive to 4th/5th decades
Dx – Western blot of muscle biopsy – abnormal/reduced dystrophin
Limb Girdle
AR, 10-30 yrs old, progressive with severe disability in 20yrs
Shoulder and pelvic girdle affected
Deltoids are spared initially – pseudohypertrophy
Biceps and brachioradialis are involved late
Hip flexors and glutei are weak
Early wasting of medial quads and tibialis anterior with lateral quads
and calves being pseudo hypertrophied
Face is never involved and normal IQ and lifespan
Normal muscle enzymes
Fascioscapular and oculopharyngeal – see ULs
Acquired
P – Polymyositis/Dermatomyositis, polymyalgia rheumatica
A – Alcohol
C – Cancer
H – HIV
E – Endocrine (Acromegaly, Cushing’s, Thyroid), ESRF
M – Mitochondrial myopathy (Myopathy, External ophthalmoplegia, red
ragged fibres and lactic acidemia), McArdle’s syndrome (weakness after
exercise)
P – Periodic Paralysis
O – osteomalacia
D – Drugs
S - Sarcoid