Chorea-acanthocytosis (ChAc) is a member of a broader group of phenotypically heterogeneous neuroacanthocytosis syndromes which include McLeod syndrome, pantothenate kinase–associated neurodegeneration (PKAN), and Huntington’s disease-like 2. ChAc is an autosomal recessive disorder characterized by chorea, basal ganglia degeneration, and acanthocytosis. Symptoms may begin at any age but often appear in young adulthood. Tongue and lip biting are characteristic features of ChAc and may be associated with orolingual dystonia activated by eating (see Chap. 73). Dysphagia and dysarthria are therefore prominent. There may also be generalized chorea of varying degree, tics, stereotypies, seizures, psychiatric symptoms, and peripheral neuropathy. Brain MRI usually shows caudate and generalized atrophy.
KeywordsPeripheral Neuropathy Deep Brain Stimulation Botulinum Toxin Masseter Muscle Autosomal Recessive Disorder
Chorea-acanthocytosis.mp4 (MP4 25,766KB)
The patient exhibits reduced facial expression, dysarthria, perioral tremor, and difficulty chewing due to oral phase dysphagia.