Phenotype #0000236367

Individual ID	00311111
Associated disease	MDDG
Phenotype details	onset childhood, slowly progressive; wheelchair bound; previous ventricular septal defects; slight insufficiency of mitral and tricuspid valves; myopia; no brain abnormalities; no intellectual disability; muscle weakness proximal and distal upper limb and lower limb; athletic and muscular build, distal lower limb hypertrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2336 U/L; muscle biopsy myopathic; involvement of dorsalis muscles, gluteus medius and minimus, and iliopsoas muscle with relative sparing of semitendinosus muscle. moderate involvement of adductor magnus muscles. slight involvement of gastrocnemius muscles with its hypertrophy without significant edema; EMG myopathic, positive repetitive nerve stimulation of quadriceps muscle
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	no indications
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-18 13:35:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD