Paroxysomal nonkinesigenic dyskinesia
Alternate names[edit | edit source]
DYT-MR-1
Definition[edit | edit source]
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement.
Cause[edit | edit source]
The familial form is caused by mutations in the PNKD gene.
Inheritance[edit | edit source]
The familial form is inherited in an autosomal dominant pattern.
Signs and symptoms[edit | edit source]
- Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. Symptoms usually last between 1 and 4 hours.
- The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
30%-79% of people have these symptoms
- Choreoathetosis
- Hyperkinetic movements(Muscle spasms)
5%-29% of people have these symptoms
- Dyskinesia(Disorder of involuntary muscle movements)
- Dyspnea(Trouble breathing)
- Generalized muscle weakness
- Joint stiffness(Stiff joint)
- Neurological speech impairment(Speech disorder)
- Rigidity(Muscle rigidity)
- Staring gaze
- Torticollis(Wry neck)
- Trismus(Lockjaw)
Diagnosis[edit | edit source]
- The clinical diagnosis of familial PNKD is suspected in a proband who presents with attacks of dystonia, chorea, and/or ballismus typically provoked by alcohol or caffeine. [1][1].
- Identification of PNKD gene by molecular genetic testing confirms the diagnosis.
Treatment[edit | edit source]
- Avoid triggers (e.g., caffeine, alcohol, excitement, stress, fatigue). [2][2].
- Response to pharmacologic treatment is poor
- Clonazepam or diazepam can be effective in some individuals.
- Some individuals have responded to gabapentin, levetiracetam, or acetazolamide.
References[edit | edit source]
- ↑ Erro R. Familial Paroxysmal Nonkinesigenic Dyskinesia. 2005 Jun 24 [Updated 2019 Apr 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1221/
- ↑ Erro R. Familial Paroxysmal Nonkinesigenic Dyskinesia. 2005 Jun 24 [Updated 2019 Apr 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1221/
NIH genetic and rare disease info[edit source]
Paroxysomal nonkinesigenic dyskinesia is a rare disease.
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Rare diseases - Paroxysomal nonkinesigenic dyskinesia
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