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Charcot-Marie-Tooth disease type 4J
Disease definition
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.
ORPHA:139515
Classification level: DisorderDetailed information
Article for general public
Professionals
- Anesthesia guidelines
- Deutsch (2022)
- Español (2022)
- Czech (2014)
- English (2014)
- Clinical practice guidelines
- Deutsch (2015)
- Français (2020)
- Clinical genetics review
- English (2013)
Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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