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A DNA test for Globoid Cell Leukodystrophy (GCL) in dogs
What is Myotonia Congenita?
Myotonia congenita is an inherited muscular disease found in many breeds, also
in Miniature Schnauzers. It is characterized by the delay of skeletal muscle
relaxation following the cessation of a voluntary activity. The delay in skeletal muscle
relaxation is not accompanied by pain or cramping.
Affected animals have significant excessive growth of the muscles (muscle hypertrophy).
They also have a stiff, stilted gait that improves with exercise. Difficulty in swallowing,
excessive salivation and an abnormal bark are often present. All affected Miniature Schnauzers
examined so far at the University of Pennsylvania also have overshot upper jaws (maxilla) and
abnormal dentition, but that is not typical of Myotonia in other breeds of dogs and in
other species.
There is no known cure for the disorder. Procainamide (a drug used in humans for heart
arrhythmia) administered at a dose of 40mg/kg every 8 hours results in some clinical
improvement, allowing the animals to walk with greater ease and to eat without difficulty.
Scientists are working actively to develop therapies that may improve the life of affected
dogs.
A DNA test for Myotonia Congenita
Breeds at risk
Breeding policy
Testing for Myotonia Congenita
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