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
C16.320.400.400.200
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:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
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embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   24021 
Unique Identifier:   D002607 

Occurrence in VHL:
 

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