Limb-girdle muscular dystrophy (LGMD)

LABOKLIN Service ID: 8863

A mutation in the sarcoglycan alpha subunit (SGCA) gene leads to Limb-Girdle Muscular Dystrophy (LGMD) in the breed Dachshund. Affected dogs show clinical signs like exercise intolerance, stiff gait, progressive weakness, myoglobinuria, as well as dysphagia and pneumonia. Markedly and persistently elevated serum creatine kinase activities can be measured in blood examinations. The symptoms appeared in young adult animals, approximately starting at the age of 7-17 months.
Muscle biopsies were dystrophic and immunostaining and western blot analysis of alpha, beta, and gamma-sarcoglycans indicated sarcoglycanopathy, a form of limb-girdle muscular dystrophy.

Method	sequencing
Breed list	Dachshund (Dackel)
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab