Phenotype #0000267847

Individual ID 00372533
Associated disease MD
Phenotype details onset young adult; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.66; no intellectual disability; normal CK; EMG myopathic; no cardiac disease
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 53y (53 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen