Charcot-Marie-Tooth disease (peroneal muscle atrophy, hereditary sensorimotor polyneuropathy (HSMN))
Jump to navigation
Jump to search
Introduction
Familial, slowly progressive, distal sensorimotor polyneuropathy.
Etiology
unknown
Pathology
peripheral nerve demyelination
Clinical manifestations
- pain, numbness & paresthesias of lower extremities
- cutaneous hyperesthesia
- muscle weakness
- atrophy of the calves
- slowly progressive foot drop
- absent lower extremity deep tendon reflexes (DTR)
- forearms & hands may be affected
More general terms
More specific terms
- 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
Additional terms
References
- ↑ DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 922
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- ↑ 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