Rare Cardiology News

Disease Profile

Chorea-acanthocytosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

E78.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Acanthocytosis with neurologic disorder; ChAc; Choreoacanthocytosis;

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases

Summary

Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.[1] There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.[2]

Symptoms

Chorea-acanthocytosis affects movement in many parts of the body.[1]

  • Chorea refers to the involuntary jerking movements made by people with this disorder.
  • People with this condition also have abnormal star-shaped red blood cells (acanthocytosis).
  • Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food.
  • People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth.
  • Nearly half of all people with chorea-acanthocytosis have seizures.
  • Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment).
  • They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy).
  • Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak.
  • Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.

The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Chorea
0002072
30%-79% of people have these symptoms
Abnormal erythrocyte enzyme level
0030272
Absent Achilles reflex
Absent ankle reflexes
0003438
Acanthocytosis
0001927
Caudate atrophy
0002340
Decreased amplitude of sensory action potentials
0007078
Dilation of lateral ventricles
0006956
Distal amyotrophy
Distal muscle wasting
0003693
Distal muscle weakness
Weakness of outermost muscles
0002460
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
EMG: neuropathic changes
0003445
Falls
0002527
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense

[ more ]

0002495
Laryngeal dystonia
0012049
Limb dystonia
0002451
Motor tics
0100034
Muscle fiber atrophy
Muscle fiber degeneration
0100295
Myopathy
Muscle tissue disease
0003198
Parkinsonism
0001300
Peripheral axonal neuropathy
0003477
Phonic tics
0100035
Poor motor coordination
0002275
Square-wave jerks
0025402
5%-29% of people have these symptoms
Abnormal putamen morphology
0031982
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Anxiety
Excessive, persistent worry and fear
0000739
Apathy
Lack of feeling, emotion, interest
0000741
Arthritis
Joint inflammation
0001369
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid

[ more ]

0000643
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Bradyphrenia
Slowness of thought
0031843
Bruxism
Teeth grinding
0003763
Decreased number of peripheral myelinated nerve fibers
0003380
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Depressivity
Depression
0000716
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Emotional lability
Emotional instability
0000712
Equinovarus deformity
0008110
Frontal cortical atrophy
0006913
Functional motor deficit
0004302
Hair-pulling
0012167
Head titubation
0002599
Head-banging
0012168
Hepatomegaly
Enlarged liver
0002240
Hyperactivity
More active than typical
0000752
Hyperkinetic movements
Muscle spasms
0002487
Hypertonia
0001276
Hypoplastic hippocampus
Small hippocampus
0025517
Irritability
Irritable
0000737
Lingual dystonia
0031008
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline

[ more ]

0001268
Micrographia
0031908
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Oromandibular dystonia
0012048
Paranoia
0011999
Peroneal muscle atrophy
0009049
Progressive inability to walk
0002505
Protruding tongue
Prominent tongue
Tongue sticking out of mouth

[ more

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.[2] Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.[3]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Chorea-acanthocytosis. Click on the link to view a sample search on this topic.

          References

          1. Chorea-acanthocytosis. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis. Accessed 8/21/2015.
          2. NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 16, 2009; https://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 8/21/2015.
          3. Baeza AV, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP. Chorea-acanthocytosis. GeneReviews. January 30, 2014.; https://www.ncbi.nlm.nih.gov/books/NBK1387/. Accessed 8/21/2015.

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