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Choreoacanthocytosis(CHAC)

MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Synonyms: Acanthocytosis with neurologic disorder; CHAC; Chorea-acanthocytosis; Levine-Critchley syndrome; Neuroacanthocytosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Choreoacanthocytosis (66881004); Chorea acanthocytosis syndrome (26848004)
 
Gene (location): VPS13A (9q21.2)
OMIM®: 200150
Orphanet: ORPHA2388

Disease characteristics

Excerpted from the GeneReview: Chorea-Acanthocytosis
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years. [from GeneReviews]
Authors:
Antonio Velayos Baeza  |  Carol Dobson-Stone  |  Luca Rampoldi, et. al.   view full author information

Additional descriptions

From OMIM
Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder.  http://www.omim.org/entry/200150
From GHR
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. 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). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.In addition to chorea, 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 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 in individuals with this condition, and can lead to an inability to speak.Behavioral changes are 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.  https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis

Clinical features

Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include. -Panic disorder . -Obsessive-compulsive disorder . -Post-traumatic stress disorder . -Phobias . -Generalized anxiety disorder . Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health .
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Psychosis
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.
Mood swings
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Sign or Symptom
An abnormal shift in patterns of thinking, acting, or feeling.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Disinhibition
MedGen UID:
140859
Concept ID:
C0424296
Mental or Behavioral Dysfunction
A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Caudate atrophy
MedGen UID:
346745
Concept ID:
C1858116
Finding
Progressive choreoathetosis
MedGen UID:
395438
Concept ID:
C1860216
Finding
Self-mutilation of tongue and lips due to involuntary movements
MedGen UID:
348566
Concept ID:
C1860219
Finding
Tics
MedGen UID:
853666
Concept ID:
C2169806
Sign or Symptom
Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Skeletal muscle atrophy
MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Creatine phosphokinase, elevated serum
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise . Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChoreoacanthocytosis
Follow this link to review classifications for Choreoacanthocytosis in Orphanet.

Recent clinical studies

Etiology

Bonelli RM, Cummings JL
Neurologist 2008 Mar;14(2):100-7. doi: 10.1097/NRL.0b013e31815b0de2. PMID: 18332839
Kay MM
Cell Mol Biol (Noisy-le-grand) 2004 Mar;50(2):117-38. PMID: 15095783
Danek A, Tison F, Rubio J, Oechsner M, Kalckreuth W, Monaco AP
Mov Disord 2001 Sep;16(5):882-9. PMID: 11746618
Silvestri R, De Domenico P, Di Rosa AE, Bramanti P, Serra S, Di Perri R
Mov Disord 1990;5(1):8-14. doi: 10.1002/mds.870050104. PMID: 2296264

Diagnosis

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
Arch Neurol 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. PMID: 15824261
Borchardt CM, Jensen C, Dean CE, Tori J
J Am Acad Child Adolesc Psychiatry 2000 Aug;39(8):1055-8. doi: 10.1097/00004583-200008000-00022. PMID: 10939235
Anand IS, Khwaja GA, Gupta M
J Assoc Physicians India 1994 Jun;42(6):495-6. PMID: 7852238
Medalia A, Merriam A, Sandberg M
Arch Neurol 1989 May;46(5):573-5. PMID: 2712754

Therapy

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Borchardt CM, Jensen C, Dean CE, Tori J
J Am Acad Child Adolesc Psychiatry 2000 Aug;39(8):1055-8. doi: 10.1097/00004583-200008000-00022. PMID: 10939235

Prognosis

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
Arch Neurol 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. PMID: 15824261
Oechsner M, Buchert R, Beyer W, Danek A
J Neurol Neurosurg Psychiatry 2001 Apr;70(4):517-20. PMID: 11254778Free PMC Article

Clinical prediction guides

Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martínez JJ, Barrera-Chairez E, Rodríguez-Figueroa EI, Pérez-García G
Arch Neurol 2007 Nov;64(11):1661-4. doi: 10.1001/archneur.64.11.1661. PMID: 17998451
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
Arch Neurol 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. PMID: 15824261
Feinberg TE, Cianci CD, Morrow JS, Pehta JC, Redman CM, Huima T, Koroshetz WJ
Neurology 1991 Jul;41(7):1000-6. PMID: 1829792
Kay MM, Goodman J, Goodman S, Lawrence C
Exp Clin Immunogenet 1990;7(3):181-99. PMID: 2383405
Hosokawa S, Ichiya Y, Kuwabara Y, Ayabe Z, Mitsuo K, Goto I, Kato M
J Neurol Neurosurg Psychiatry 1987 Oct;50(10):1284-7. PMID: 2960785Free PMC Article

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