DNAJB2-related Charcot-Marie-Tooth disease type 2
Synonyms: DNAJB2-related CMT2
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
DNAJB2-related Charcot-Marie-Tooth disease type 2?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Clinical Trials
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