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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, axonal, Type 2HH

Summary

Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

4 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1, JAG1
    Summary: jagged canonical Notch ligand 1

Clinical features

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