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Congenital myasthenic syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

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.

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.

Additional information

References

Pubmed ID: 26327126,26374066

Omia ID: 1621

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