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Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4J (CMT4J) 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.
CMT4J is rare, with only five patients reported in the literature so far.
The syndrome is characterized by rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss.
It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase, which plays a key role in trafficking of intracellular organelles.
CMT4J is transmitted in an autosomal recessive manner.
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