Phenotype #0000343388

Individual ID	00454769
Associated disease	MYOP
Diagnosis/Initial	congenital myopathy
Diagnosis/Definite	-
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
Inheritance	Familial, autosomal recessive
Age/Examination	40y-50y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-26 09:29:23 +02:00 (CEST)
Date last edited	N/A