GTR Home > Conditions/Phenotypes > Choreoacanthocytosis

Disease characteristics

Excerpted from the GeneReview: Chorea-Acanthocytosis
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.

Available tests

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Associated genes

Clinical features

  • Ascites
  • Splenomegaly
  • Hyporeflexia
  • Areflexia
  • Short stature
  • Abnormality of erythrocytes
  • Aggressive behavior
  • EMG abnormality
  • Lymphadenopathy
  • Gait disturbance
  • Dysarthria
  • Dysphagia
  • Caudate atrophy
  • Amyotrophy
  • Progressive choreoathetosis
  • Self-mutilation of tongue and lips due to involuntary movements
  • Acanthocytosis
  • Incoordination
  • Recurrent respiratory infections
  • Seizure
  • Cataract
  • Anxiety
  • Malabsorption
  • Memory impairment
  • Nystagmus
  • Vasculitis
  • Tremor
  • Abnormality of the oral cavity
  • Psychosis
  • Dementia
  • Disinhibition
  • Personality changes
  • Sensory neuropathy
  • Abnormality of the thyroid gland
  • Pallor
  • Muscular hypotonia
  • Parkinsonism
  • Dystonia
  • Mood changes
  • Hypertrophic cardiomyopathy
  • Pes cavus
  • Weight loss
  • Abnormality of coagulation
  • Nausea and vomiting
  • Abdominal pain
  • Chorea
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Neurological speech impairment
  • Hepatomegaly
  • Drooling
  • Orofacial dyskinesia
  • Sleep disturbance
  • Developmental regression
  • Elevated hepatic transaminases
  • Abnormality of urine homeostasis
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Limb muscle weakness
  • Acute hepatic failure
  • Attention deficit hyperactivity disorder
  • Peripheral neuropathy
  • Tics
  • Self-injurious behavior
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