Global Variome shared LOVD

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Phenotype #0000267856 Individual ID 00372542 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; 18y-loss of ambulation; contractures ankles/elbows/hips/knees; atrophy PUL/DLL/neck; no facial weakness; no ptosis; neck weakness; no scoliosis; rigid spine; FVC 0.44; no intellectual disability; raised CK 1.1x; no cardiac disease Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 31y (31 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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