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Cat DNA testing illustration

Congenital Myasthenic Syndrome (CMS) – Cat

Code: K400

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Congenital Myasthenic Syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders.

General information

Congenital Myasthenic Syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders. A causal mutation in the COLQ gene affects acetylcholinesterase, an enzyme that terminates signal transduction at the neuromuscular junction.

Specifications

Breeds

Devon Rex, Sphynx
Gene

COLQ
Chromosome

C2
Mutation

c.1190G>A
Organ

Muscles
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

limb-gridle

Clinical features

Cats with Congenital myasthenic syndrome (CMS) have a congenital muscle weakness. Cats show evidence of generalized muscle weakness, particularly following exertion, stress, or excitement. Characteristic positions as “dog-begging” or “chipmunk”, usually with their front legs resting on a convenient object can be shown. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible. Occasionally the symptoms become static.

References

Pubmed ID: 26327126,26374066

Year published: 2015

Omia ID: 1621

Omia variant ID:

Turnaround information

  • 15 working days