Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000236375 Individual ID 00311119 Associated disease MDDG Phenotype details onset infantile, slowly progressive; wheelchair bound; left ventricular ejection fraction 50%; no eye anomalies; left frontal cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb atrophy; contractures lower limb and proximal upper limb, spinal rigidity; no scapular winging; scoliosis; serum creatine kinase 585 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 54y (54 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein α-DG and merosin 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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