DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1). This is caused by mutations in the myofibrillo-genesis regulator 1 (MR1) gene on chromosome 2.

Genetics and epidemiology

  • This is caused by mutations in the myofibrillo-genesis regulator 1 (MR1) gene on chromosome 2
  • The transmission is autosomal dominant
  • Onset may be in infancy, childhood, or adult age

Major features

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Characteristics of dystonic episodes

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Associated features

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Triggers for episodes

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Treatment

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Synonym

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References

  1. Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Bruno MK, Lee HY, Auburger GW, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68:1782-1789.
  3. Fink JK, Rainer S, Wilkowski J, et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 1996; 59:140-145.
  4. Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder. JNNP 1991; 54:1090-1092.

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