Paroxysmal Nonkinesigenic Dyskinesia 1

Alternative Names

  • PNKD1
  • Paroxysmal Dystonic Choreoathetosis
  • PDC
  • Choreoathetosis, Familial Paroxysmal
  • FPD1
  • Mount-Reback Syndrome
  • Choreoathetosis, Nonkinesigenic
  • Dystonia 8
  • DYT8
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WHO-ICD-10 version:2010

Diseases of the nervous system

Extrapyramidal and movement disorders

OMIM Number

118800

Mode of Inheritance

Autosomal dominant

Gene Map Locus

2q35

Description

Paroxysmal Nonkinesigenic Dyskinesia 1 (PKND) is a rare, episodic movement disorder, characterized by involuntary dystonic, choric, ballismic, or athetosic attacks of unilateral or bilateral involvement. These spontaneous hyperkinetic attacks last from minutes to hours, rarely occur more than once per day, and are usually precipitated by caffeine or alcohol intake, or stress and fatigue. The attacks may be accompanied by a preceding aura, and occur while the individual is awake. The usual age of onset of these attacks is in childhood or the early teens.

Diagnosis of PNKD is based on the clinical features. This condition is characterized by normal ictal and interictal EEG, and MRI. Therefore, neurological assessment and MRI ought to be performed to exclude any other causes of the clinical features. The condition tends to show poor response to medications.

Familial PNKD is inherited in an autosomal recessive manner. The only gene shown to be responsible for the development of this disease is the MR1 (Myofibrillogenesis Regulator gene 1) gene. The product of this gene has been shown to interact with contractile proteins of the muscle, and thereby play a role in muscle contraction.

Epidemiology in the Arab World

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Other Reports

Oman

Hempelmann et al. (2006) genotyped an Omani family with paroxysmal nonkinesigenic dyskinesia (PNKD) to investigate whether this disorder mapped to the myofibrillogenesis regulator gene (MR-1). The family was composed of 23 members with six affected members (two males and four females) who were diagnosed with this condition as they had attacks since childhood of paroxysmal involuntary choreoathetotic and dystonic movements occurring spontaneously or precipitated by fatigue or emotional stress. The attacks, which lasted 10 minutes to one hour with a frequency of once in a week to once in a month, were associated with dysarthric speech but unaltered consciousness, and were preceded by an aura of unilateral muscle tightness and inner tension followed by ipsilateral choreoathetotic movements of one limb progressing into hemidystonia/choreoathetosis and then generalized dystonic spasms and choreoathetotic movements. In between the attacks, there was no neurological deficit. All family members had normal psychomotor and intellectual development.

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