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
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