Charcot-Marie-Tooth disease type 4J

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Charcot-Marie-Tooth disease type 4J

Synonyms: CMT4J

Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe rapidly progressive axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities severe motor dysfunction with mildly reduced sensory impairment and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

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 March 2024

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