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
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 ]	0010808
Resting tremor	Tremor at rest	0002322
Self-mutilation of tongue and lips due to involuntary movements		0008767
Self-neglect		0025479
Short attention span	Poor attention span Problem paying attention [ more ]	0000736
Slow saccadic eye movements	Slow eye movements	0000514
Slurred speech		0001350
Small basal ganglia		0012697
Socially inappropriate behavior		0030220
Splenomegaly	Increased spleen size	0001744
Temporomandibular joint crepitus		0012479
Upgaze palsy		0025331
Weight loss		0001824
1%-4% of people have these symptoms
Abnormal autonomic nervous system physiology		0012332
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Elevated serum alanine aminotransferase		0031964
Elevated serum aspartate aminotransferase		0031956
Increased lactate dehydrogenase level		0025435
Iron accumulation in brain		0012675
Percent of people who have these symptoms is not available through HPO
Areflexia	Absent tendon reflexes	0001284
Autosomal recessive inheritance		0000007
Disinhibition		0000734
Drooling	Dribbling	0002307
Dystonia		0001332
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Limb muscle weakness	Limb weakness	0003690
Mood changes	Moody	0001575
Orofacial dyskinesia		0002310
Personality changes	Personality change	0000751
Pes cavus	High-arched foot	0001761
Progressive	Worsens with time	0003676
Progressive choreoathetosis		0007326
Psychosis		0000709
Seizure		0001250
Sensory neuropathy	Damage to nerves that sense feeling	0000763
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Tics	Tic disorder	0100033

Showing of 96 |

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

Last updated: 11/1/2020

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.

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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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