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Charcot-Marie-Tooth disease (peroneal muscle atrophy, hereditary sensorimotor polyneuropathy (HSMN))

Familial, slowly progressive, distal sensorimotor polyneuropathy. Etiology: unknown Pathology: peripheral nerve demyelination Clinical manifestations: 1) pain, numbness & paresthesias of lower extremities - cutaneous hyperesthesia 2) muscle weakness a) peroneus longus b) peroneus brevis c) tibialis anterior d) extensor longus digitorum 3) atrophy of the calves 4) slowly progressive foot drop 5) absent lower extremity deep tendon reflexes (DTR) 6) forearms & hands may be affected

Related

Charcot, J.M.

Specific

Charcot-Marie-Tooth disease dominant intermediate B (CMTDIB) Charcot-Marie-Tooth disease dominant intermediate C (CMTDIC) Charcot-Marie-Tooth disease dominant intermediate D (CMTDID) Charcot-Marie-Tooth disease recessive intermediate A (CMTRIA) Charcot-Marie-Tooth disease type 1 (CMT1, hereditary sensorimotor polyneuropathy type-1, HSMN1) Charcot-Marie-Tooth disease type 2 (CMT2) Charcot-Marie-Tooth disease type 3 (CMT3) Charcot-Marie-Tooth disease type 4 (CMT4) Charcot-Marie-Tooth disease type 5; optic atrophy-polyneuropathy-deafness; Rosenberg-Chutorian syndrome (CMT5) Charcot-Marie-Tooth disease type 6; autosomal dominant hereditary motor & sensory neuropathy VI (CMT6, HMSN6) Dejerine-Sottas syndrome; Dejerine-Sottas neuropathy; hereditary motor & sensory neuropathy 3

General

hereditary neuropathy

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 922
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
  3. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Charcot-Marie-Tooth Disorder Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Charcot-Marie-Tooth-Disease-Information-Page