Global Variome shared LOVD

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Phenotype #0000267842 Individual ID 00372528 Associated disease MD Phenotype details onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows; atrophy prox > distal; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC normal; speech delay; raised CK 1.5x; EMG myopathic; muscle biopsy dystrophic; mitral valve prolapse (non-significant) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-09 13:06:47 +02:00 (CEST) Date last edited N/A

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