Inherited diseases in horses refer to genetic disorders that are transmitted from one generation to the next, affecting various physiological and anatomical functions. These diseases result from mutations or alterations in specific genes, leading to a range of clinical manifestations. Common inherited diseases in horses include Hyperkalemic Periodic Paralysis (HYPP), Severe Combined Immunodeficiency (SCID), and Polysaccharide Storage Myopathy (PSSM). These conditions can impact muscle function, immune response, and metabolic processes, respectively. Genetic testing and breeding management are often utilized to identify carriers and reduce the incidence of these disorders in equine populations. This page compiles peer-reviewed research studies and scholarly articles that explore the genetic basis, pathophysiology, and management strategies for inherited diseases in horses.
McCue PM, Bisiau C, Divine C, May E.Congential amastia, a medical condition in which mammary tissue fails to develop, was detected in a 3-year-old Quarter Horse mare. The dam of the mare was also afflicted with amastia, suggesting that the condition was due to an inherited genetic mutation as noted in other species. In addition, on presentation the mare had a purulent vaginal discharge secondary to a pyometra.
Bellone RR.Horses perform in a variety of disciplines that are visually demanding, and any disease impacting the eye has the potential to threaten vision and thus the utility of the horse. Advances in equine genetics have enabled the understanding of some inherited ocular disorders and ocular manifestations and are enabling cross-species comparisons. Genetic testing for multiple congenital ocular anomalies, congenital stationary night blindness, equine recurrent uveitis, and squamous cell carcinoma can identify horses with or at risk for disease and thus can assist in clinical management and breeding dec...
Townsend WM.Examination of the lens is critical, particularly when evaluating horses with visual impairment or performing prepurchase examinations. To adequately evaluate the lens, the pupil must be pharmacologically dilated. A cataract is any lens opacity. The size, density, and position of a cataract determine the impact on vision. Cataracts may be congenital or inherited or occur secondary to trauma or equine recurrent uveitis. Surgical removal is the only treatment option for vision impairing cataracts, but careful selection of surgical candidates is critical for successful outcomes.
Bellone RR.Advances in equine genetics and genomics resources have enabled the understanding of some inherited ocular disorders and ocular manifestations. These ocular disorders include congenital stationary night blindness, equine recurrent uveitis, multiple congenital ocular anomalies, and squamous cell carcinoma. Genetic testing can identify horses with or at risk for disease and thus can assist in clinical management. In addition, genetic testing can identify horses that are carriers and thus can inform breeding decisions. Use of genetic tests in management and breeding decisions should aid in reduci...
Finno CJ, Stevens C, Young A, Affolter V, Joshi NA, Ramsay S, Bannasch DL.Horses belong to the order Perissodactyla and bear the majority of their weight on their third toe; therefore, tremendous force is applied to each hoof. An inherited disease characterized by a phenotype restricted to the dorsal hoof wall was identified in the Connemara pony. Hoof wall separation disease (HWSD) manifests clinically as separation of the dorsal hoof wall along the weight-bearing surface of the hoof during the first year of life. Parents of affected ponies appeared clinically normal, suggesting an autosomal recessive mode of inheritance. A case-control allelic genome wide associat...
Sanz MG, Wills TB, Christopherson P, Hines MT.A 17-year-old Peruvian Paso mare was evaluated for bilateral epistaxis that had been present for at least 3 years. The mare had mild anemia, platelet count within the reference interval, unremarkable coagulation times, and a negative Coggins test. On endoscopic examination, structural abnormalities were not observed in the nasal cavities, pharynx, larynx, trachea, or either guttural pouch, but petechiation was noted in the nasal mucosa. Additional tests revealed prolonged cutaneous bleeding time, normal concentration of von Willebrand factor antigen, an abnormal clot retraction test, and failu...
Boudreaux MK.Inherited intrinsic platelet disorders have been identified in dogs, cattle, horses, and cats as well as other animals. The prevalence of mutations in some breeds is high, making these disorders potentially as common as von Willebrand disease in certain breed lineages.
Borges AS, Conceição LG, Alves AL, Fabris VE, Pessoa MA.Hereditary equine regional dermal asthenia belongs to a group of inherited, congenital connective tissue dysplasias usually described as hyperelastosis cutis, cutaneous asthenia, dermatosparaxis, or Ehlers-Danlos-like syndrome. This report presents the clinical and histological features of three related Quarter horses affected with regional dermal asthenia. These horses had bilateral asymmetric lesions of the trunk and lumbar regions, where the skin was hyperextensible. Handling of the skin elicited a painful response and superficial trauma led to skin wounds. The skin was thinner than normal ...
Turner AG.A discussion of ocular conditions of foals with an emphasis on congenital and inherited disorders is presented. An understanding of the normal postnatal development of the eye and adnexae is important. Recognition of inherited abnormalities is essential when giving advice on breeding suitability, and prompt attention or referral of deteriorating ocular conditions in foals ensures the best outcome for future use. Congenital conditions may be recognized for the first time in older animals during their first thorough eye examination.
Url A, Bauder B, Thalhammer J, Nowotny N, Kolodziejek J, Herout N, Fürst S, Weissenböck H.Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Three horses showed developmental retardation, slow movements and loss of appetite at the age of six months. Neurological symptoms, as well as visual failure in one case, were noticed at the age of 1 year. Due to slowly progressing deterioration, euthanasia was indicated 1.5 years after onset of conspicuous behavior. At necropsy, slight flattening of the gyri and discoloring of the brain was...
McCornico RS, Duckett WM, Wood PA.Persistent hyperammonemia was diagnosed in 2 Morgan fillies with clinical signs that developed early in the postweaning period. Diagnostic evaluation, including routine serum chemistries, CBC, liver biopsy, hepatic ultrasonography, liver function test, and necropsy findings did not support a toxic, developmental, or infectious cause. Abnormal serum amino acid and urine orotic acid concentrations suggest that the foals may have had an inherited disorders described in humans as hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The disorder is thought to be caused by a defe...
Church S.Three Quarter Horse stallions and 5 of their 11 tested progeny were diagnosed as affected with the inherited autosomal dominant defect hyperkalaemic periodic paralysis in Victoria in 1992. The diagnoses were based on the appearance of clinical signs and associated increased plasma potassium concentrations in response to oral potassium loading. All affected horses were descendants of the American Quarter Horse Impressive. Indirect evidence indicates that at least 3 other affected Quarter Horse stallions have stood or are standing at stud in Australia. The clinical details of the affected horses...
Hoffman EP.The pathological genetic defects in the inherited myotonias and periodic paralyses were recently elucidated using molecular genetic studies. These disorders are usually transmitted as a dominant trait from an affected parent to a child. The many clinical symptoms include cold-induced uncontrollable contraction of muscle, potassium-induced contraction and paralysis, myotonia with dramatic muscular hypertrophy, muscle stiffness, and insulin-induced paralysis (in males). Horses afflicted with the disorder can suddenly collapse, despite an impressive physique. In the past three years, these clinic...
Naylor JM.The purpose of this review is to present an up-to-date summary of the signs, diagnosis, treatment, and implications of equine hyperkalemic periodic paralysis. The review encompasses all original articles published between 1986 and early 1993. Hyperkalemic periodic paralysis is the result of a genetic mutation in the skeletal muscle sodium channel gene. It is inherited as an autosomal dominant trait; most affected horses are heterozygotes. The classical signs are muscle fasciculation, spasm, and weakness associated with hyperkalemia. However, these signs are only rarely observed in affected hor...
Hardy MH, Fisher KR, Vrablic OE, Yager JA, Nimmo-Wilkie JS, Parker W, Keeley FW.The hyperextensible, fragile skin of two related horses was compared with the skin of eight normal horses. Skin sections were examined by light microscopy and transmission electron microscopy. The deep dermal layer of the dorsal abdomen was much thinner in the affected horses, and contained bundles of collagen fibers which were more loosely packed. Within individual fibers, the fibrils were frequently curved and nonparallel rather than straight and parallel. Both of the affected animals had a greater range of fibril diameters than a normal horse. They had some unusually thick fibrils with very...
Hoffman EP.The pathological genetic defects in the inherited myotonias and periodic paralyses were recently elucidated using molecular genetic studies. These disorders are usually transmitted as a dominant trait from an affected parent to a child. The many clinical symptoms include cold-induced uncontrollable contraction of muscle, potassium-induced contraction and paralysis, myotonia with dramatic muscular hypertrophy, muscle stiffness, and insulin-induced paralysis (in males). Horses afflicted with the disorder can suddenly collapse, despite an impressive physique. In the past three years, these clinic...
McCornico RS, Duckett WM, Wood PA.Persistent hyperammonemia was diagnosed in 2 Morgan fillies with clinical signs that developed early in the postweaning period. Diagnostic evaluation, including routine serum chemistries, CBC, liver biopsy, hepatic ultrasonography, liver function test, and necropsy findings did not support a toxic, developmental, or infectious cause. Abnormal serum amino acid and urine orotic acid concentrations suggest that the foals may have had an inherited disorders described in humans as hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The disorder is thought to be caused by a defe...
Naylor JM.The purpose of this review is to present an up-to-date summary of the signs, diagnosis, treatment, and implications of equine hyperkalemic periodic paralysis. The review encompasses all original articles published between 1986 and early 1993. Hyperkalemic periodic paralysis is the result of a genetic mutation in the skeletal muscle sodium channel gene. It is inherited as an autosomal dominant trait; most affected horses are heterozygotes. The classical signs are muscle fasciculation, spasm, and weakness associated with hyperkalemia. However, these signs are only rarely observed in affected hor...
Bellone RR.Horses perform in a variety of disciplines that are visually demanding, and any disease impacting the eye has the potential to threaten vision and thus the utility of the horse. Advances in equine genetics have enabled the understanding of some inherited ocular disorders and ocular manifestations and are enabling cross-species comparisons. Genetic testing for multiple congenital ocular anomalies, congenital stationary night blindness, equine recurrent uveitis, and squamous cell carcinoma can identify horses with or at risk for disease and thus can assist in clinical management and breeding dec...
Hardy MH, Fisher KR, Vrablic OE, Yager JA, Nimmo-Wilkie JS, Parker W, Keeley FW.The hyperextensible, fragile skin of two related horses was compared with the skin of eight normal horses. Skin sections were examined by light microscopy and transmission electron microscopy. The deep dermal layer of the dorsal abdomen was much thinner in the affected horses, and contained bundles of collagen fibers which were more loosely packed. Within individual fibers, the fibrils were frequently curved and nonparallel rather than straight and parallel. Both of the affected animals had a greater range of fibril diameters than a normal horse. They had some unusually thick fibrils with very...
Sanz MG, Wills TB, Christopherson P, Hines MT.A 17-year-old Peruvian Paso mare was evaluated for bilateral epistaxis that had been present for at least 3 years. The mare had mild anemia, platelet count within the reference interval, unremarkable coagulation times, and a negative Coggins test. On endoscopic examination, structural abnormalities were not observed in the nasal cavities, pharynx, larynx, trachea, or either guttural pouch, but petechiation was noted in the nasal mucosa. Additional tests revealed prolonged cutaneous bleeding time, normal concentration of von Willebrand factor antigen, an abnormal clot retraction test, and failu...
Url A, Bauder B, Thalhammer J, Nowotny N, Kolodziejek J, Herout N, Fürst S, Weissenböck H.Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Three horses showed developmental retardation, slow movements and loss of appetite at the age of six months. Neurological symptoms, as well as visual failure in one case, were noticed at the age of 1 year. Due to slowly progressing deterioration, euthanasia was indicated 1.5 years after onset of conspicuous behavior. At necropsy, slight flattening of the gyri and discoloring of the brain was...
Boudreaux MK.Inherited intrinsic platelet disorders have been identified in dogs, cattle, horses, and cats as well as other animals. The prevalence of mutations in some breeds is high, making these disorders potentially as common as von Willebrand disease in certain breed lineages.
Turner AG.A discussion of ocular conditions of foals with an emphasis on congenital and inherited disorders is presented. An understanding of the normal postnatal development of the eye and adnexae is important. Recognition of inherited abnormalities is essential when giving advice on breeding suitability, and prompt attention or referral of deteriorating ocular conditions in foals ensures the best outcome for future use. Congenital conditions may be recognized for the first time in older animals during their first thorough eye examination.
Bellone RR.Advances in equine genetics and genomics resources have enabled the understanding of some inherited ocular disorders and ocular manifestations. These ocular disorders include congenital stationary night blindness, equine recurrent uveitis, multiple congenital ocular anomalies, and squamous cell carcinoma. Genetic testing can identify horses with or at risk for disease and thus can assist in clinical management. In addition, genetic testing can identify horses that are carriers and thus can inform breeding decisions. Use of genetic tests in management and breeding decisions should aid in reduci...
Townsend WM.Examination of the lens is critical, particularly when evaluating horses with visual impairment or performing prepurchase examinations. To adequately evaluate the lens, the pupil must be pharmacologically dilated. A cataract is any lens opacity. The size, density, and position of a cataract determine the impact on vision. Cataracts may be congenital or inherited or occur secondary to trauma or equine recurrent uveitis. Surgical removal is the only treatment option for vision impairing cataracts, but careful selection of surgical candidates is critical for successful outcomes.
McCue PM, Bisiau C, Divine C, May E.Congential amastia, a medical condition in which mammary tissue fails to develop, was detected in a 3-year-old Quarter Horse mare. The dam of the mare was also afflicted with amastia, suggesting that the condition was due to an inherited genetic mutation as noted in other species. In addition, on presentation the mare had a purulent vaginal discharge secondary to a pyometra.
Church S.Three Quarter Horse stallions and 5 of their 11 tested progeny were diagnosed as affected with the inherited autosomal dominant defect hyperkalaemic periodic paralysis in Victoria in 1992. The diagnoses were based on the appearance of clinical signs and associated increased plasma potassium concentrations in response to oral potassium loading. All affected horses were descendants of the American Quarter Horse Impressive. Indirect evidence indicates that at least 3 other affected Quarter Horse stallions have stood or are standing at stud in Australia. The clinical details of the affected horses...
Borges AS, Conceição LG, Alves AL, Fabris VE, Pessoa MA.Hereditary equine regional dermal asthenia belongs to a group of inherited, congenital connective tissue dysplasias usually described as hyperelastosis cutis, cutaneous asthenia, dermatosparaxis, or Ehlers-Danlos-like syndrome. This report presents the clinical and histological features of three related Quarter horses affected with regional dermal asthenia. These horses had bilateral asymmetric lesions of the trunk and lumbar regions, where the skin was hyperextensible. Handling of the skin elicited a painful response and superficial trauma led to skin wounds. The skin was thinner than normal ...
Finno CJ, Stevens C, Young A, Affolter V, Joshi NA, Ramsay S, Bannasch DL.Horses belong to the order Perissodactyla and bear the majority of their weight on their third toe; therefore, tremendous force is applied to each hoof. An inherited disease characterized by a phenotype restricted to the dorsal hoof wall was identified in the Connemara pony. Hoof wall separation disease (HWSD) manifests clinically as separation of the dorsal hoof wall along the weight-bearing surface of the hoof during the first year of life. Parents of affected ponies appeared clinically normal, suggesting an autosomal recessive mode of inheritance. A case-control allelic genome wide associat...
