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III./3.2.3.1 Classification of dystonia

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III./3.2.3.1 Classification of dystonia

In this chapter, dystonia syndromes that have clinical significance in routine clinical practice are discussed. The classification of dystonias is continuously changing due to the rapidly growing knowledge of genetics. The genetic classification of dystonias is increasingly replacing the earlier classifications based on symptoms. In clinical practice, all three complementary classifications are used to find the correct diagnosis and to provide appropriate treatment.

Etiological classification

1. primary dystonia (hereditary or idiopathic) 2. secondary dystonia (structural damage, metabolic dysfunction, drug induced)

3. heredodegenerative diseases with dystonia (e.g. Wilson‘s disease)

4. dystonia plus syndromes (e.g. myoclonic dystonia) Topographic classification

1. focal dystonia: eyelid (blepharospasmus), mouth (oromandibular dystonia), larynx (spasmodic dystonia), cervical (torticollis), hand (writer’s cramp)

2. segmental dystonia: two adjacent regions are affected, e.g.

cranial and cervical, or cervical and trunk muscles 3. multifocal dystonia

4. hemidystonia

5. generalized dystonia (e.g. DYT1 or DYT5 dystonia) Genetic classification (only known genes and proteins are mentioned)

1. DYT1, protein: torsin A, inheritance: AD, locus: 9q34 2. DYT3, protein: TAF1, inheritance: XR, locus: Xq13.1 3. DYT5, protein: GTP-cyclohydrolase-I, inheritance: AD, locus: 14q22

4. DYT8 protein: myofibrillogenesis regulator I, inheritance:

AD, locus: 2q33

5. DYT11, protein: ε-sarcoglycan, inheritance: AD, locus:

7q21

6. DYT12, protein: ATP1A3, inheritance: AD, locus: 19q 7. DYT16, protein: PRKRA, inheritance: AR, locus: 2q31 On the following pages, the most common primary or idiopathic dystonia syndromes will be discussed.

References:

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Klein C, Ozelius LJ. Dystonia: clinical features, genetics, and treatment. Curr Opin Neurol 2002; 15(4):491–497.

Lauren M. Tanabe, Connie E. Kim, Noga Alagem, and William T.

Dauer. Primary dystonia: molecules and mechanisms. Nat Rev Neurol. 2009 November; 5(11): 598–609.

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