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Choreoathetosis, familial inverted

MedGen UID:
348393
Concept ID:
C1861569
Disease or Syndrome
Synonym: INFANTILE CHOREOATHETOSIS OF FISHER
 
Monarch Initiative: MONDO:0007325
OMIM®: 118750

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Progressive choreoathetosis
MedGen UID:
395438
Concept ID:
C1860216
Finding
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.

Recent clinical studies

Diagnosis

Fisher M, Sargent J, Drachman D
Neurology 1979 Dec;29(12):1627-31. doi: 10.1212/wnl.29.12.1627. PMID: 159419

Therapy

Fisher M, Sargent J, Drachman D
Neurology 1979 Dec;29(12):1627-31. doi: 10.1212/wnl.29.12.1627. PMID: 159419

Prognosis

Fisher M, Sargent J, Drachman D
Neurology 1979 Dec;29(12):1627-31. doi: 10.1212/wnl.29.12.1627. PMID: 159419

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