Charcot-Marie-Tooth disease X-linked recessive 3
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
MONDO:0018994
Charcot-Marie-Tooth disease type X
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CMT3X
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CMTX 3
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CMTX3
exact
Charcot Marie Tooth disease X-linked recessive 3
exact
Charcot-Marie-Tooth disease X-linked recessive type 3
exact
Charcot-Marie-Tooth disease, X-linked recessive, 3
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Charcot-Marie-Tooth neuropathy, X-linked recessive, 3
exact
Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive
exact
X-linked Charcot-Marie-Tooth disease type 3
exact