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Congenital Myasthenic Syndrome (Labrador Retriever Type)

Description

Genetic basis - Caused by a missense mutation (c.1010T>C, p.Ile337Thr) in the COLQ gene, which encodes the collagenous tail subunit of acetylcholinesterase. This mutation disrupts proper anchoring of the ColQ protein at the neuromuscular junction, impairing signal termination. The disorder is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for disease manifestation.

Pathophysiology - Impaired acetylcholinesterase function leads to prolonged acetylcholine action at the neuromuscular junction. Results in defective neuromuscular transmission and generalized skeletal muscle weakness. Signs typically begin between 6 to 12 weeks of age.

Clinical Signs - Generalised muscle weakness that worsens with exercise or stress. Puppies may collapse after brief vigorous exercise but recover with rest. Reduced mobility and decreased spinal reflexes. Disease progression causes increasing difficulty bearing weight.

Diagnosis - Electrodiagnostic tests and clinical evaluation support diagnosis. Definitive diagnosis requires genetic testing for the COLQ mutation.

Recommended Breeding

Diseases

Congenital Myasthenic Syndrome (Labrador Retriever Type)

$ 50.00

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Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

2-hydroxyacyl-CoA lyase 1 (COLQ) on chromosome 23

Variant Detected:

c.1010T>C, p.Ile337Thr

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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