Known Carriers of Genetic Disorders - The Horse Forum
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post #1 of 1 Old 10-19-2010, 03:27 PM Thread Starter
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Known Carriers of Genetic Disorders

I just thought it might be helpful and interesting to list specific line or breed related disorders. It's meant to be a kind of an educational type thread. Please add anything that could be helpful to future horse buyers or breeders...

Poco Bueno (AQHA) (I don't believe he has been determined to be the sole originator at this point - predominetly found in reiners)
HERDA - Hereditary Equine Regional Dermal Asthenia, Formerly called Hyperelastosis Cutis (HC) Recessive. Average life span is two-four years. Skin layers separate due to collagen defect, and horses cannot be ridden. Prevent by not breeding two carrier horses.

Impressive (AQHA)
HYPP - Hyperkalemic Periodic Paralysis Dominant. Genetic mutation of sodium channel in muscle membranes that results in zero to severe muscle symptoms and possible death from heart failure. AQHA registered horses have a designation of N/N for normal, H/N for single gene and H/H for both mutated genes on the registration papers. Prevent HYPP by testing all Impressive-bred horses and not breeding horses with H/N or H/H designation. Management of affected horses is possible with medication from a veterinarian and/or carefully balanced low-potassium rations.

RER - Recurrent Exertional Rhabdomyolysis Dominant. Genetic form of tying-up or muscle damage and stiffness usually found in young, excitable Thoroughbred racing fillies. Management is possible by reducing starch and adding fat and following carefully managed exercise program. Diagnosis is possible with muscle biopsies.

Paint and Pinto horses
OLWS - Overo Lethal White Syndrome - Recessive. Disorder of Paint and Pinto horses resulting in pure white color and incomplete formation of the digestive tract. Always fatal in utero or within hours of birth. Prevent OWLS by not crossing two horses with Overo (one form of pinto spotting) coloring or breeding. A test for the Overo gene is available from the American Paint Horse Association.

Quarter Horses, Draft Horses and crossbreds
PSSM - Polysaccharide Storage Myopathy Dominant. Genetic form of tying-up with muscle damage and inability to move, usually found in Quarter Horses, Draft Horses and crossbreds. Horses make and store abnormal muscle glycogen and cannot tolerate dietary starches and sugars. Horses with PSSM can be maintained with low-starch and low-sugar rations and precise exercise protocols. Diagnosis is possible with muscle biopsies.

SCID Severe Combined Immunodeficiency Recessive. Lack of normal immune function in Arabian Horses. Usually fatal early in life. Prevent by not breeding two carriers. No genetic test at this time.

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