Differential condition | Common symptoms |
---|---|
Limb–girdle muscular dystrophy (LGMD) | Progressive muscle weakness in the pelvis, legs, and shoulders; elevated CK |
Becker muscular dystrophy (BMD) | Progressive proximal muscle weakness, prominent quadriceps weakness, calf hypertrophy, elevated CK, cardiomyopathy |
Selenoprotein N1-related myopathy | Spinal rigidity, respiratory failure, muscle hypotrophy |
Myasthenia gravis | Ptosis, ophthalmoplegia, bulbar dysfunction, proximal muscle weakness, fluctuating course |
Spinal muscular atrophy | Progressive proximal muscle weakness and atrophy, respiratory failure, postural tremor, mild elevated CK |
Polymyositis | Unexplained muscle weakness with elevated CK |
Glycogen storage diseases: IIIa (Debrancher deficiency/Cori), IV (branching enzyme deficiency/Anderson disease), V | Hypotonia, hepatomegaly and hepatic failure, muscle weakness with distal involvement, elevated CK |
Danon disease | Hypertrophic cardiomyopathy, skeletal muscle myopathy |
Mitochondrial myopathies | Hyptonia, hyporeflexia, hepatomegaly. Some forms with hypertrophic cardiomyopathy, muscle weakness, external ophthalmoplegia, elevated CK |
Lipid storage myopathies | Fluctuating muscle weakness with respiratory involvement, sometimes bulbar weakness, elevated CK |