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Table 1 Differential diagnosis of LOPD

From: Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

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

  1. CK creatine kinase. Adapted by permission from Macmillan Publishers Ltd: Genet Med. 2006;8(5):267–88 [52] © 2006