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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, demyelinating, type 1J

Charcot-Marie-Tooth disease, demyelinating, type 1J

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J

Summary

Charcot-Marie-Tooth disease type 1J (CMT1J) is an autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. The age at onset is highly variable, ranging from early childhood to mid-adulthood, and the disorder is progressive, although the severity is also variable. Additional features may include foot deformities, upper limb or hand involvement, and decreased or absent deep tendon reflexes. Electrophysiologic studies tend to show nerve conduction velocities in the demyelinating range, although some patients may have results in the intermediate range, likely reflecting secondary axonal degeneration (summary by Ronkko et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT1J, IP3R, IP3R-3, IP3R3, ITPR3
    Summary: inositol 1,4,5-trisphosphate receptor type 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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