Phenotype #0000343388
| Individual ID |
00454769 |
| Associated disease |
MYOP |
| Phenotype details |
delayed motor milestones, 3y-walk; progression stable through childhood, slow decline since fourth/fifth decade; walk unaided, able to climb stairs with aid of railing; stand up with assistance, able to walk 10 m with support; generalised weakness (proximal and distal upper and lower limbs), ptosis, facial/neck flexor weakness; absent reflexes; talipes at birth, ankle contractures; dorsal scoliosis, lumbar lordosis, winged scapulae; generalised muscle wasting; ptosis, ophthalmoparesis (surgical correction ptosis and squint in childhood); nasal voice, no dysphagia; no respiratory support, forced vital capacity 1.76 L (0.63), PIMmax 0.43, PEMmax 0.72; cleft palate; myalgia, exercise intolerance; hypoacuasia fourth decade (neural deafness); alcoholic liver cirrhosis; died from hepatic insufficiency (transplant excluded); myopathic features, normal repeat nerve stimulation and jitter; 11y-muscle biopsy quadriceps type 1 myofiber predominance, with <2% of type myofibers, some hypertrophied myofibers and disseminated atrophic myofibers of both types |
| Diagnosis/Initial |
congenital myopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
40y-50y |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-09-26 09:29:23 +02:00 (CEST) |
| Date last edited |
N/A |
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