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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2P

Charcot-Marie-Tooth disease axonal type 2P

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P; CMT 2G; Charcot-Marie-Tooth Neuropathy Type 2G; Charcot-Marie-Tooth disease type 2P
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. [from SNOMEDCT_US]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2P, RIFLE, TAL, LRSAM1
    Summary: leucine rich repeat and sterile alpha motif containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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