Phenotype #0000358746

Individual ID	00473951
Associated disease	MD
Phenotype details	onset 22y with difficulty walking and Lt. lower limb weakness which extended to Rt. upper limb later; Mild cardiac problem; Muscle weakness, distal>proximal, Lt. leg & Rt. hand; Mild Claw toe; Mild pes cavus; Muscle wasting in distal of left leg & distal of right hand; Mild thenar & hypothenar atrophy; Tremor in right hand; Loss of tip-toe walking since 6-mo ago; Abnormal gait; Difficulty walking, running and climbing steps, mild; Elevated level of AST, ALT, LDH & CPK; Mild deformity in left ankle;Muscle biopsy showed slight myopathic atrophy with prominent internalization of nuclei and few basophilic degenerative/regenerative fibers associated with some moth-eaten fibers and secondary neurogenic changes fiber type grouping; EMG-NCV was in favor of a myopathic process mostly involving GC muscles, R/O Miyoshi type of dysferlinopathy.
Diagnosis/Initial	muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD