Global Variome shared LOVD

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Phenotype #0000270401 Individual ID 00375191 Associated disease MYOP Phenotype details newborn period general muscular hypotonia, facial weakness, muscle tendon reflexes absent, motor development delayed, never gained head control; 1y-feeding problems due to weak suck required gavage feeding; MRI cranial 4y-normal except mildly enlarged CSF space; serum CK-levels normal; 5y-muscle biopsy fiber-type 1 atrophy; 10y-myopathic facies, highly arched palate, severe distal muscle weakness, generalized muscle atrophy, scoliosis, ankle contractures, severely retarded motor and mental development; not able to stand, sit, eat, or drink without support; no speech; early brainstem evoked potentials could not be elicited, otoacoustic emissions normal; neurography showed combined axonal and demyelinating motor neuropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2021-05-29 21:25:15 +02:00 (CEST) Date last edited N/A

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