Chorea-acanthocytosis

Title

Other Names:

Acanthocytosis with neurologic disorder; ChAc; Choreoacanthocytosis; Acanthocytosis with neurologic disorder; ChAc; Choreoacanthocytosis; Chorea acanthocytosis See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases

This disease is grouped under:

Neuroacanthocytosis

Summary 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]

Last updated: 8/21/2015

Symptoms 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]

Last updated: 8/21/2015

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Acanthocytosis		0001927
Ataxia		0001251
Muscular hypotonia	Low or weak muscle tone	0001252
Pallor		0000980
Peripheral neuropathy		0009830
30%-79% of people have these symptoms
Abnormal bleeding	Bleeding tendency	0001892
Abnormal urinary color	Abnormal urinary colour Abnormal urine color [ more ]	0012086
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Anxiety	Excessive, persistent worry and fear	0000739
Areflexia	Absent tendon reflexes	0001284
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Chorea		0002072
Death in early adulthood		0100613
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Difficulty in tongue movements		0000183
Distal upper limb muscle weakness		0008959
Dysarthria	Difficulty articulating speech	0001260
Dysgraphia		0010526
Dystonia		0001332
Elevated serum creatine phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase 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 abnormality		0003457
Fatigue	Tired Tiredness [ more ]	0012378
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Limb muscle weakness	Limb weakness	0003690
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Muscle fiber atrophy	Muscle fiber degeneration	0100295
Myopathy	Muscle tissue disease	0003198
Orofacial dyskinesia		0002310
Progressive distal muscular atrophy		0008955
Protruding tongue	Prominent tongue Tongue sticking out of mouth [ more ]	0010808
Seizures	Seizure	0001250
Tremor	Tremors	0001337
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Abnormality of the foot	Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity [ more ]	0001760
Abnormality of the thyroid gland	Thyroid abnormality	0000820
Acute hepatic failure	Acute liver failure	0006554
Ascites	Accumulation of fluid in the abdomen	0001541
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Elevated hepatic transaminase	High liver enzymes	0002910
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Hepatomegaly	Enlarged liver	0002240
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Lymphadenopathy	Swollen lymph nodes	0002716
Malabsorption	Intestinal malabsorption	0002024
Nausea and vomiting		0002017
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Self-injurious behavior	Self-injurious behaviour	0100716
Short stature	Decreased body height Small stature [ more ]	0004322
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Splenomegaly	Increased spleen size	0001744
Vasculitis		0002633
Weight loss		0001824
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autosomal recessive inheritance		0000007
Caudate atrophy		0002340
Disinhibition		0000734
Drooling	Dribbling	0002307
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Hyporeflexia		0001265
Mood changes	Moody	0001575
Parkinsonism		0001300
Personality changes	Personality change	0000751
Pes cavus	High-arched foot	0001761
Progressive		0003676
Progressive choreoathetosis		0007326
Psychosis		0000709
Self-mutilation of tongue and lips due to involuntary movements		0008767
Sensory neuropathy		0000763
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Tics	Tic disorder	0100033

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.^[1]

Last updated: 8/21/2015

Diagnosis 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 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]

Last updated: 8/21/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnoses depend on the presenting symptoms and include McLeod neuroacanthocytosis syndrome, Huntington's disease, Huntington-like disorders, juvenile Parkinson's disease and Tourette's syndrome (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Chorea-acanthocytosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

Advocacy for Neuroacanthocytosis Patients
32 Launceston Place
London W8 5RN
England
Telephone: +44 (0) 20 7937 2938
E-mail: ginger@naadvocacy.org
Website: http://www.naadvocacy.org/

Do you know of an organization? We want to hear from you.

Learn More 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

Genetics Home Reference (GHR) contains information on Chorea-acanthocytosis. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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References References

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

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