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Duchenne muscular dystrophy

General description

Duchenne muscular dystrophy is a form of feline X-linked muscular dystrophy (FXMD). A genetic variant has been identified in exon 11 of the DMD (dystrophin) gene in Maine Coons, which is associated with muscular dystrophy caused by dystrophin deficiency. Within the first year of life, symptoms such as general muscle weakness, increased salivation (ptyalism), an enlarged tongue (macroglossia), enlarged muscles (muscle hypertrophy), limb deformities, and abnormalities in gait. The blood test reveals a significantly elevated level of creatine kinase (CK). Affected cats are often smaller than their siblings. The disease progresses with age and is often fatal.

Breeds

Maine Coon

Test number Included only in LABOGeneticsXXL – Cat
Inheritance X-linked recessive
Gene DMD
Mutation C-T
References OMIA:001081-9685