what is your diagnosis?
what is the mode of inheritance?
features:
wasting of the muscles of the calves and thigh that stops in the lower third of the thigh giving "inverted champagne bottle"appearance.
pus cavus
clawing of the toes
weakness of dorsiflexion
wasting and clawing of the muscles of the hand
look for:
lateral popliteal nerve thickening
enlarge greater auricular nerve
gate (high steppage gate due to foot drop)
ask about family history.
Marie Charcot Tooth disease with autosomal dominant mode of inheritance
ReplyDeletecorrect.
ReplyDeleteCMT is the most commonly inherited prepheral neuropathy in the UK.
it is autosomal dominanat.(remember to ask about family history)
what are the causes of foot drop?
what are the causes of pus cavus?
Mainly AD but could also be autosomal recessive.
ReplyDeleteCauses of foot drop:
pelvic malignancy causing compression of sacral plexus
trauma/IM inj to sciatic nerve
CPN lesion at fibular head due to trauma or mnoneuritis multiplex
Myastehina Gravis
Myotonia dystrophica
Causes of pes cavus:
Any long standing LMN such as
Friedrich`s ataxia
CMTD
Polio
CIDP