Paroxysomal nonkinesigenic dyskinesia

Alternate names

DYT-MR-1

Definition

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

The familial form is caused by mutations in the PNKD gene.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The familial form is inherited in an autosomal dominant pattern.

Signs and symptoms

• 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

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

• Paroxysmal dyskinesia

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

• 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].
• Identification of PNKD gene by molecular genetic testing confirms the diagnosis.

Treatment

• Avoid triggers (e.g., caffeine, alcohol, excitement, stress, fatigue). [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.

NIH genetic and rare disease info

• NIH info on Paroxysomal nonkinesigenic dyskinesia

Paroxysomal nonkinesigenic dyskinesia is a rare disease.

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