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Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750· ICD-10 G72.3

Definition

Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.

Prevalence
<1 / 1 000 000
Inheritance
Mitochondrial inheritance
Age of onset
Adolescent, Adult