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Congenital Myasthenic Syndrome (Golden Retriever Type)

Description

Genetic basis - Caused by a novel point mutation in the COLQ gene encoding the collagenous tail of acetylcholinesterase. The identified mutation is a missense mutation (G294R) in the COLQ gene. COLQ is essential for anchoring acetylcholinesterase at the neuromuscular junction, which terminates muscle contraction by clearing acetylcholine. The disorder is inherited in an autosomal recessive manner; affected dogs are homozygous for the mutation.

Pathophysiology - Mutation disrupts proper acetylcholinesterase function, leading to persistent acetylcholine stimulation at the neuromuscular junction.Results in impaired neuromuscular transmission causing muscle weakness.Presentation begins around weaning age (~4 weeks).

Clinical Signs - Generalized muscle weakness. Exercise intolerance and easy fatigability. Abnormal gait, stiffness, and pacing. Reduced spinal reflexes. No megaesophagus (distinguishing from acquired myasthenia gravis). Affected puppies often show clinical signs soon after weaning.

Diagnosis - Clinical neurological examination and electrodiagnostic testing confirm neuromuscular transmission defect. Muscle biopsy and biochemical assays may be used. Definitive diagnosis through genetic testing for the COLQ mutation.

Recommended Breeding

Diseases

Congenital Myasthenic Syndrome (Golden 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:

Musculoskeletal - Associated with muscles, bones and associated structures

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:

COLQ

Variant Detected:

chr23:27687716 (canFam4): G/A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference