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III./10.1. Classification of muscle diseases

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III./10.1. Classification of muscle diseases

In this chapter on muscle diseases, focus is on the clinically most important disorders. A detailed description of muscle diseases and rare muscle disorders are found in recommended websites and references.

Muscle disorders are grouped according to the following classification, where only major subgroups are mentioned.

I. Muscular dystrophies 1. Dystrophinopathies

Duchenne muscural dystrophy Becker muscural dystrophy 2. Limb girdle muscural dystrophies

Sarcoglycanopathies Calpainopathy Caveolinopathy Dysferlinopathy

3. Facioscapulohumeral muscural dystrophy (FSHD) 4. Myotonic dystrophy

Type I (Curschmann-Steinert) Type II (PROMM)

II. Inflammatory myopathies 1. Polymyositis (PM) 2. Dermatomyositis (DM)

3. Inclusion body myositis (IBM) 4. Infectious myositis

III. Metabolic myopathies

1. Disorders of mitochondrial oxydative phosphorylation (OXPHOS)

Mitochondrial DNA disorders

Mitochondrial myopathies due to nuclear DNA mutations

2. Disorders of glycogen metabolism McArdle’s disease

Pompe disease

3. Disorders of lipid metabolism Carnitine deficiency

Carnitine palmityl transferase deficiency (CPTII) IV. Disorders of neuromuscular transmission

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1. Myasthenia gravis

2. Eaton-Lambert syndrome V. Ion-channel disorders

1. Myotonia congenita Thomsen type Becker type

VI .Endocrine, iatrogenic and toxic myopathies

The following website is of help in the differential diagnosis of muscle disorders:

http://neuromuscular.wustl.edu/maltbrain.html

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