Limb-Girdle Muscular Dystrophy (LGMD)
Limb-Girdle Muscular Dystrophy (LGMD)
General description
Limb-Girdle Muscular Dystrophy (LGMD) affected dogs show clinical signs like exercise intolerance, stiff gait, progressive weakness, myoglobinuria, as well as variable 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.
Breeds
Dachshund (Dackel)
Order details
| Test number | 8863 |
| Abbreviation | LGMD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Age of onset | 7-17 months |
| Causality | causally |
| Gene | SGCA |
| Mutation | G-A |
| Literature | OMIA:002305-9615 |
Detailed description
The dystrophy of the shoulder and pelvic girdle muscles described in humans as limb-girdle muscular dystrophy (LGMD) also occurs in dachshunds and is caused by a variant in the sarcoglycan alpha subunit (SGCA) gene.
Affected dogs show clinical symptoms such as exercise intolerance, a stiff gait, progressive weakness, increased excretion of myoglobin in the urine (myoglobinuria), as well as difficulty swallowing (dysphagia) and lung inflammation (pneumonia). Persistently elevated creatine kinase activity can be measured in the serum. The symptoms appeared in young adult animals at around 7–17 months of age.
Muscle cells in biopsies were dystrophic and immunostaining and western blot analysis of alpha, beta, and gamma-sarcoglycans indicated sarcoglycanopathy, a form of limb-girdle muscular dystrophy.
