Phenotype #0000236364
| Individual ID |
00311108 |
| Associated disease |
MDDG |
| Phenotype details |
onset infantile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.71; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, paraspinal and scapular muscle atrophy; contractures lower limb and proximal upper limb, spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 3850 U/L; muscle biopsy myopathic, dystrophic; involvement of thigh, piriformis and gluteus maximus muscles, slight involvement of vastus lateralis and rectus femoris. involvement of triceps suralis and biceps and biceps brachailis; EMG myopathic |
| Diagnosis/Initial |
dystroglycanopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
α-DG deficiency |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-09-18 13:35:42 +02:00 (CEST) |
| Date last edited |
N/A |
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