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  3. Chorea-acanthocytosis
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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


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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


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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.

Showing of 74 |
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 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 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
Inflammation of blood vessel
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
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Mood changes
Moody
0001575
Parkinsonism 0001300
Personality changes
Personality change
0000751
Pes cavus
High-arched foot
0001761
Progressive
Worsens with time
0003676
Progressive choreoathetosis 0007326
Psychosis 0000709
Self-mutilation of tongue and lips due to involuntary movements 0008767
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Tics
Tic disorder
0100033
Showing of 74 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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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


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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


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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


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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


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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


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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


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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


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Can you provide me with general information about choreoacanthocytosis? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Chorea-acanthocytosis. Genetics Home Reference (GHR). 2008; http://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; http://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.; http://www.ncbi.nlm.nih.gov/books/NBK1387/. Accessed 8/21/2015.
Do you know of a review article? We want to hear from you.
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