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H996

Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Paroxysmal Dystonia-Ataxia Syndrome and Paroxysmal Movement Disorder (PMD), is a disorder found in the Weimaraner, which can cause an abnormal gait, muscle contractions and possible collapse.

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Spesifikasjoner

Breeds

Gene

Chromosome

7

Mutation

c.831dupC

Mode of Inheritance

Automatisk resessiv

Organ

Specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Generell informasjon

Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Paroxysmal Dystonia-Ataxia Syndrome and Paroxysmal Movement Disorder (PMD), is a disorder found in the Weimaraner, which can cause an abnormal gait, muscle contractions and possible collapse. It is caused by a recessive mutation to the gene TNR.

Kliniske egenskaper

Affected puppies begin displaying episodes of muscle contractions between 3 and 7 months of age. These episodes are characterized by an abnormal gait with hypermetria (overextending the limbs while stepping), a bowed back and low-held head, possible anisocoria (pupils of different size), and ataxia (loss of coordination), which can lead to collapse. These episodes can last between 5 and 15 minutes, and may be triggered by exercise or excitement.

Tilleggsinformasjon

Referanser

Pubmed ID: 37023257

Year published: 2023

Omia ID: 2663

Omia variant ID:

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