Phenotype #0000236363

Individual ID	00311107
Associated disease	MDDG
Phenotype details	onset childhood, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.81; muscle weakness p roximal and distal upper limb and lower limb; proximal and distal upper limb atrophy,distal lower limb atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 2787 U/L; muscle biopsy myopathic, dystrophic; symmetric involvement in back and abdominal muscles. involvement of gluteal, vastus medius, intermedialis and lateralis, sartorius, rectus femoris, biceps femoris, semimembranosus and semitendinosus muscles. relative sparing of m.soleus and adductor longus. involvement of peroneus longus muscles, with relative sparing of tibialis anterior; EMG myopathic, dystrophic
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12y (12 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