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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4J

Charcot-Marie-Tooth disease type 4J

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J; Charcot-Marie-Tooth Neuropathy Type 4J; Charcot-Marie-Tooth Neuropathy Type 4J (CMT4J)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease type 4J (CMT4J) is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). [from OMIM]

Available tests

60 tests are in the database for this condition.

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Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1, FIG4
    Summary: FIG4 phosphoinositide 5-phosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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