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. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Neurol Clin. 2014 Aug;32(3):569–vii. doi: 10.1016/j.ncl.2014.04.008

BOX 7. DIAGNOSIS OF MYOPATHY BASED ON AGE OF ONSET.

Myopathies Presenting at Birth
 Central core disease
 Centronuclear (myotubular) myopathy
 Congenital fiber-type disproportion
 Congenital muscular dystrophy
 Congenital myotonic dystrophy
 Glycogen storage diseases (acid maltase and phosphorylase deficiencies)
 Lipid storage diseases (carnitine deficiency)
 Nemaline (rod) myopathy
Myopathies Presenting in Childhood
 Congenital myopathies – Nemaline myopathy, Centronuclear myopathy, Central Core
 Endocrine-metabolic disorders – hypokalemia, hypocalcemia, hypercalcemia
 Glycogen storage disease (acid maltase deficiency)
 Inflammatory myopathies – dermatomyositis, polymyositis (rarely)
 Lipid storage disease (carnitine deficiency)
 Mitochondrial myopathies
 Muscular dystrophies – Congenital, Duchenne, Becker, Emery-Dreifuss, Facioscapulohumeral, Limb-girdle
Myopathies Presenting in Adulthood
 Centronuclar myopathy
 Distal myopathies
 Endocrine myopathies – thyroid, parathyroid, adrenal, pituitary disorders
 Inflammatory myopathies - polymyositis, dermatomyositis, inclusion body myositis, viral (HIV)
 Metabolic myopathies – acid maltase deficiency, lipid storage diseases, debrancher deficiency, phosphorylase b kinase deficiency
 Mitochondrial myopathies
 Muscular dystrophies – Limb-girdle, Facioscapulohumeral, Becker, Emery-Dreifuss
 Myotonic dystrophy
 Nemaline myopathy
 Toxic myopathies – alcohol, corticosteroids, local injections of narcotics, colchicine, chloroquine