Choreoacanthocytosis

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.


Total: 2

                       


(per page)
PMID (PMCID)
20544815
 OTHER Adult
Characteristic head drops and axial extension in advanced chorea-acanthocytosis.
Schneider SA, Lang AE, Moro E, Bader B, Danek A, Bhatia KP.
Mov Disord. 2010;25(10):1487-91.
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features.
11218703
 MALE Adult
[A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy].
Kageyama Y, Kodama Y, Tadano M, Yamamoto S, Ichikawa K.
Rinsho Shinkeigaku. 2000;40(8):816-20.
We report a patient of chorea-acanthocytosis (CA), presenting with dilated cardiomyopathy and myopathy.