DonateLimb-Girdle Muscular Dystrophy (LGMD)
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Limb-Girdle Muscular Dystrophy (LGMD)
Mutation
chr4:53262018-53262020, ATG>CC
Mutation 2
chr4:53262030-53281433del19405bp
Details
Limb-girdle muscular dystrophy is a disease causing abnormal muscle development. Symptoms include: muscle wasting, a stiff and stilted gait, an enlarged tongue and drooling, difficulty swallowing, and frequent vomiting. Affected pups are usually euthanized by 8-10 months of age.
Details 2
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips... The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining... (From Cox et al, 2017)
Published
Cox ML, Evans JM, Davis AG, Guo LT, Levy JR, Starr-Moss AN, Salmela E, Hytönen MK, Lohi H, Campbell KP, Clark LA, Shelton GD: Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skeletal Muscle 2017, in press
Breed Specific Info
Researched Breeds
Boston Terrier
