NEUROMUSCULAR CASE OF THE MONTH - JANUARY 2006
(Update: See Neuromuscular case of the month November 2001)

Genetic test now available for L-2-hydroxyglutaric aciduria (L-2-HGA) in Staffordshire Bull Terriers
Contributed by Dr. Diane Shelton
University of California, San Diego

A new metabolic disorder affecting young Staffordshire Bull Terriers was reported as our November 2001 Neuromuscular Case of the Month. L-2-HGA is a neurometabolic disorder characterized by elevated levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluid. The central nervous system is affected. Clinical signs include seizures, “wobbly” gait, tremors, and muscle stiffness resulting from exercise or excitement and are apparent at between 6 months and one year of age, although they can appear later. A clinical description of this disorder has been published (Abramson et al. J Vet Intern Med 2003;17:551-556).

The mutation responsible for this disease has recently been identified at the Animal Health Trust in the UK by Dr. Jacques Penderis. Using the information from this research, a DNA based test has been developed and is available now. This test can diagnose affected dogs and detect those dogs that are carriers and displaying no clinical signs of the disease. Carrier dogs can produce affected pups, thus highlighting the importance of identification of this population of dogs prior to breeding. Breeders will be sent results identifying their dog as belonging to one of three categories: Clear, Carrier, or Affected. Carriers can still be bred to clear dogs. However, pups produced from such a breeding should themselves be DNA tested prior to breeding to determine whether they are clear or carrier.

For testing in Europe: Mrs Vikki Lett (08700 509144 or email to vikki.lett@aht.org)

Submit samples together with completed DNA Testing form and check (£60-00 for each sample) to:
Genetic Services
Animal Health Trust, Lanwades Park
Kentford, Newmarket, Suffolk CB8 7UU
UK

For general information:

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