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Transcript
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