Kifafa seizure disorder

MedGen UID:: 208655
•Concept ID:: C0796010
•: Disease or Syndrome

Synonyms:	Complex familial seizure disorder; Parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes; Vitsala

Monarch Initiative:	MONDO:0009497
OMIM®:	245180

Definition

A convulsive seizure disorder observed in an isolated tribe in the interior of Tanzania. It is a chronic degenerative disorder of the central nervous system associated with seizures and other neurological complications, characteristic facies, psychomotor retardation, and pachyderma. Kifafa is a Swahili word meaning ""being half-dead and rigid."" [from MCA/MR]

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.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Transient psychotic episodes

MedGen UID:: 870511
•Concept ID:: C4024958
•: Mental or Behavioral Dysfunction

Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.

See: Feature record | Search on this feature