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Charcot-Marie-Tooth disease type 4J

Synonym(s) CMT4J
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • G60.0
MeSH -
MedDRA -


Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. CMT4J is rare, with only five patients reported in the literature so far. The syndrome is characterized by rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. CMT4J is transmitted in an autosomal recessive manner and is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase, which plays a key role in trafficking of intracellular organelles.

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