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Duchenne Muscular Dystrophy

General description

Duchenne muscular dystrophy is a form of feline X-linked muscular dystrophy (FXMD). In cats, a genetic variant in exon 35 of the DMD (dystrophin) gene has been identified that 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). The disease progresses with age and is often fatal.

Breeds

German Shorthaired Pointer

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