Phenotype #0000291170

Individual ID	00398060
Associated disease	ataxia
Diagnosis/Initial	Autosomal recessive cerebellar ataxia
Diagnosis/Definite	Autosomal recessive cerebellar ataxia type 3 (ARCA3)
Phenotype details	Developmental history: The patient is a product of normal pregnancy and delivery Social history: 6th in birth order and he has 2 sisters and 4 brothers. Family history: o History of consanguineous marriage (3rd degree, parents are cousins) o There is history of affection of her older brother (age 37 years old). He had similar condition with progressive incoordination in form of unsteadiness of gait, intension tremors, and staccato speech. He now walks with moderate support History of present illness: At the age of 19 years, the patient developed an insidious illness, in the form of gait disturbance (ataxia). At age of 20 years he developed dysarthria (staccato speech). At age of 24, she developed intension tremors in both hands. No history of weakness of upper or lower limbs. No sphincteric disturbance. No cognitive deterioration. No cranial nerve involvement. No history of DM. The patient still walks without support. Neurological examination of the patient (HFA0017-a): Staccato speech Normal fundus examination No nystagmus Wide base gait Wasting of small muscle of hand. Hypotonia around ankle. Muscle power: grade 5. Positive tests of incoordination in both upper and lower limbs. Positive Rhomorgism. Preserved deep reflexes in both upper and lower limbs. Intact abdominal reflexes Equivocal planter response Intact superficial sensation. Lost sense of vibration Investigations: NCS of both UL and LL: axonal neuropathy of LL.
Inheritance	Familial, autosomal recessive
Age/Examination	26y (26 years)
Age/Onset	19y
Phenotype/Onset	Ataxia
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2021-12-30 20:57:48 +01:00 (CET)
Date last edited	2022-03-03 10:15:31 +01:00 (CET)