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

Charcot-Marie-Tooth disease, axonal, type 2FF

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2FF; Charcot-Marie-Tooth disease, axonal, type 2FF

Summary

Charcot-Marie-Tooth disease type 2FF (CMT2FF) is an autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Most patients have foot and ankle deformities, requiring surgery or walking aids. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. Proximal muscle function is preserved. Affected individuals have variable distal sensory impairment. Most patients have hyporeflexia, although brisk reflexes, suggesting upper motor involvement, have been described in 1 family. Sural nerve biopsy showed abnormal myelination (Rebelo et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BIgR, CMT2FF, IGSF4B, NECL1, Necl-1, TSLL1, synCAM3, CADM3
    Summary: cell adhesion molecule 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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