Global Variome shared LOVD

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Phenotype #0000236376 Individual ID 00311120 Associated disease MDDG Phenotype details onset childhood, progressive; walks independent; no cardiac involvement; no eye anomalies; central and cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 1590 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein α-DG deficiency Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-18 13:35:42 +02:00 (CEST) Date last edited N/A

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