released
December 12th, 2019 at 12:21am
Details
Details
definition
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. (EFO)
namespace
http://www.ebi.ac.uk/efo
parents
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preferred_name
Charcot-Marie-Tooth disease type 1G
source_ontologies
synonyms
- Charcot-Marie-Tooth disease, demyelinating, 1G
term_id
EFO:0010266
term_name
Charcot-Marie-Tooth disease type 1G
term_url
http://www.ebi.ac.uk/efo/EFO_0010266