Search on: CHARCOT-MARIE-TOOTH DISEASE 
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Descriptor English:   Charcot-Marie-Tooth Disease 
Descriptor Spanish:   Enfermedad de Charcot-Marie-Tooth 
Descriptor Portuguese:   Doença de Charcot-Marie-Tooth 
Synonyms English:   Atrophy, Muscular, Peroneal
Hereditary Motor, and Sensory Neuropathy Type I
Hereditary Motor and Sensory-Neuropathy Type II
HMSN Type I
HMSN Type II
Roussy-Levy Syndrome
Muscular Atrophy, Peroneal
Peroneal Muscular Atrophy  
Tree Number:   C10.500.300.200
C10.574.500.495.200
C10.668.829.800.300.200
C16.131.666.300.200
C16.320.400.375.200
Definition English:   A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) 
See Related English:   Myelin P0 Protein
 
History Note English:   2000(1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   24021 
Unique Identifier:   D002607 

Occurrence in VHL:
 

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