Phenotype #0000317714

Individual ID 00426559
Associated disease MDC
Phenotype details 4m-head control, 10m-sit, 1.7y-walk; no motor regression; no contractures; no spinal deformity; no respiratory involvement; ECG normal; ultrasonic cardiogram mild tricuspid regurgitation; no feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 3y-343 U/L; EMG myopathic changes; MRI brain 2y-abnormal white matter hyperintensities; MRI thigh muscle diffuse fatty infiltration, atrophy; pectus carinatum
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Age/Examination 10.8y
Age/Diagnosis -
Age/Onset 4m
Phenotype/Onset muscle weakness, hypotonia
Protein 2.4y-IHC no LAMA2
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 2022-12-01 16:50:45 +01:00 (CET)
Date last edited N/A

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