Charcot-Marie-tooth disease axonal type 2FF

Term ID

DOID:0070836

Synonyms

• CMT2FF

Definition

A Charcot-Marie-Tooth disease type 2 characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs that has_material_basis_in heterozygous mutation in the CADM3 gene on chromosome 1q21. Additional symptoms include foot and ankle deformities requiring surgery or walking aids, variable distal sensory impairment, and prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. https://pubmed.ncbi.nlm.nih.gov/33889941/

References

• MIM:619519
• UMLS_CUI:C5561981

Ontology

Human Disease   ( DOID:0070836 )