Phenotype #0000357697

Individual ID	00472902
Associated disease	MPD7
Diagnosis/Initial	myopathy
Diagnosis/Definite	MPD7
Phenotype details	progressive weakness/fatigue in bilateral distal lower limbs third decade; complained about proximal lower/upper limbs in recent years, able to walk; development milestones normal; contracture Achilles tendon in early life; deltoid muscle, tibial muscle, gluteus maximus strength were 4/5; decreased tendon reflex; CK 600-1163 U/L; electrophysiological study myogenic changes. Pure tone audiometry indicated mild sensorineural deafness ; ECG/cardiac ultrasonography normal; MRI showed muscle atrophy, fatty infiltration chest, shoulder, upper arm, and forearm; MRI thigh showed slightly fatty infiltration gluteus maximus and atrophy and fatty infiltration in the anterior and posterior compartment muscles in the calf muscles
Inheritance	Familial, X-linked
Age/Examination	34y (34 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Mridul Johari
Database submission license
Created by	Mridul Johari
Date created	2026-03-06 07:57:40 +01:00 (CET)
Date last edited	2026-03-10 08:15:46 +01:00 (CET)

Global Variome shared LOVD