Orphanet: DNAJB2 related Charcot Marie Tooth disease type 2
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DNAJB2-related Charcot-Marie-Tooth disease type 2

Disease definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.

ORPHA:443950

Classification level: Disorder
  • Synonym(s):
    • DNAJB2-related CMT2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G60.0
  • OMIM: 614881  616233
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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