Phenotype #0000291168

Individual ID	00398058
Associated disease	ataxia
Diagnosis/Initial	Autosomal recessive cerebellar ataxia
Diagnosis/Definite	17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) gene mutation
Phenotype details	A 29 year-old female presented for evaluation of progressive gait disorder started at the age of 10 years which intensified when vision was excluded. She developed intention tremors at the age of 23 years, numbness in upper and lower extremities of stroking and glove distribution at the age of 25 years and dysarthria at the age of 26 years. She had primary amenorrhea and gynecological evaluation confirmed the absence of the uterus and adnexa (ovarian agenesis) but normal secondary sexual characteristics. She was the product of consanguineous of two neurologically healthy parents. She had healthy and fertile sisters and brothers. Neurological examination revealed, mild dysarthria (staccato speech), gaze-evoked nystagmus, moderate upper and lower extremities dysmetria, moderate gait ataxia (ambulant and walked unassisted), brisk deep tendon jerks but absent ankle tendon jerks, She had bilateral pes cavus and hammer toes. Brain MRI showed cerebellar volume loss. Nerve conduction studies revealed symmetrically reduced nerve conduction velocities of motor median, ulnar, peroneal and tibial nerves; absent electrical response of sensory median, sensory ulnar and sural nerves; markedly reduced amplitudes of motor nerves of the upper and lower extremities indicating demyelinating and axonal sensorimotor neuropathy. Plantar responses were flexor, average intelligence. Pure tone audiometry was normal.
Inheritance	Familial, autosomal recessive
Age/Examination	29y (29 years)
Age/Onset	10y
Phenotype/Onset	Ataxia
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2021-12-30 20:39:41 +01:00 (CET)
Date last edited	2022-03-03 10:30:16 +01:00 (CET)