Phenotype #0000327839

Individual ID 00437934
Associated disease DMD
Phenotype details see paper; ..., 1m-elevated CK level (increased during course disease up to over 17,000 U/L); 11m-muscle weakness, hypotonia proximal legs, arms, trunk, shoulders, face, pharynx; areflexia, multiple contractures; ositive Gowers sign, pseudohypertrophy calves/tongue; 11y-loss of ambulation; 24y-severe generalized muscle weakness,hypotonia with involvement facial/pharyngeal muscles, nourished through PEG tube, tracheotomized, ventilated entire day, significant reduction intelligence/dyslalia, never able to complete sentences
Diagnosis/Initial Duchenne muscular dystrophy
Inheritance Familial, X-linked recessive
Diagnosis/Definite DMD
Age/Examination 24y (24 years)
Age/Onset 00y01m
Phenotype/Onset -
Age/Diagnosis -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-16 20:33:46 +02:00 (CEST)
Date last edited N/A

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