Rare Pediatrics News
Disease Profile
Chorea-acanthocytosis
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
- 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
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 |
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 | |
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, progressive
Progressive dementia
[ more ] |
0000726 | ||
Depressivity |
Depression
|
0000716 | |
Difficulty articulating speech
|
0001260 | ||
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
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. 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. 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. 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. Rare Pediatrics News |