Gert J. Breur: Genetic Musculoskeletal Diseases

Canine and Feline Genetic Musculoskeletal Diseases

Selected Dysostoses with a known Genetic Etiology*

Breed		Disease	Mode of inheritance
Dogs	Australian shepherd	Polydactyly (extra digits)	X-linked lethal or sex-influenced autosomal
	beagle	Brachury (short tail)	Simple autosomal dominant
	bulldog	Spina bifida	Unknown
	Cairn terrier	Anury (no tail)	Unknown
	Chihuahua	Hemimelia	Unknown
	cocker spaniel	Anury (no tail)	Autosomal recessive
	German short-haired pointer	Hemivertebra	Simple autosomal recessive
	Great Pyrenees	Polydactyly (extra digits)	Autosomal dominant
	Saint Bernard	Polydactyly (extra digits)	Autosomal recessive
Cats	domestic shorthair	Hemimelia	Autosomal

Selected Osteochondrodysplasias*

Breed		Disease	Mode of inheritance
Dogs	Alaskan malamute	Chondrodysplasia	Simple autosomal recessive
	Akita	Achondrogenesis	Unknown
	beagle	Chondrodysplasia punctata Multiple Epiphyseal Dysplasia Osteogenesis Imperfecta	Unknown Simple autosomal Recessive
	bulldog	Osteochondrodysplasia	Unknown
	bull terrier	Osteochondrodysplasia	Unknown
	cocker spaniel	Hypochondroplasia	Simple autosomal recessive
	Great Pyrenees	Chondrodysplasia	Simple autosomal recessive
	Labrador retriever	Oculo-skeletal dysplasia	Simple autosomal recessive
	miniature poodle	Achondroplasia Epiphyseal chondrodysplasia Multiple epiphyseal dysplasia	Simple autosomal recessive Unknown Unknown
	mixed-breed dog	Mucopolysaccharidosis VII	Simple autosomal recessive
	Norwegian elkhound	Chondrodysplasia	Simple autosomal recessive
	Plott hound	Mucopolysaccharidosis I	Simple autosomal recessive
	Samoyed	Oculo-skeletal dysplasia without hematological abnormalities Oculo-skeletal dysplasia with hematological abnormalities	Simple autosomal recessive Unknown
	Scottish terrier	Achondroplasia Idiopathic multifocal osteopathy	Unknown Unknown
	Scottish deerhound	Pseudoachondroplasia	Simple autosomal recessive
Cats	domestic shorthair	Mucopolysaccharidosis I	Unknown
	Siamese	Mucopolysaccharidosis VI	Simple autosomal recessive
	Siamese	Multiple cartilagenous exostoses	Unknown

Breed Predisposition for Developmental Orthopedic Diseases* ‡

Disease	Dog breeds at increased risk for specific DODs.
CHD	Airedale, Alaskan malamute, bearded collie, Bernese mountain dog, bloodhound, border collie, Bouvier des Flandres, briard, Brittany spaniel, bulldog, bullmastiff, Chesapeake Bay retriever, chow chow, English springer spaniel, German shepherd dog, German wirehaired pointer, giant schnauzer, golden retriever, Gordon setter, Great Dane, Great Pyrenees, keeshond, Kuvasz, Labrador retriever, mastiff, Neapolitan mastiff, Newfoundland, Norwegian elkhound, Old English sheepdog, pointer, Portuguese water dog, rottweiler, Saint Bernard, Samoyed, Tree Walker coonhound
CMO	Cairn terrier, Scottish terrier, West Highland white terrier
FCP	Basset hound, Bernese mountain dog, Bouvier des Flandres, bullmastiff, chow chow, German shepherd dog, golden retriever, Gordon setter, Irish wolfhound, Labrador retriever, mastiff, Newfoundland, rottweiler, Saint Bernard
HOD	Boxer, Chesapeake Bay retriever, German shepherd dog, golden retriever, Great Dane, Irish setter, Labrador retriever, Weimaraner
LCP	Australian shepherd, Cairn terrier, Chihuahua, dachshund, Lhasa apso, miniature pinscher, pug, toy poodle, West Highland white terrier, Yorkshire terrier
OCD Elbow	Chow chow, German shepherd dog, golden retriever, Great Dane, Labrador retriever, Newfoundland, rottweiler
OCD Shoulder	Bernese mountain dog, border collie, Bouvier des Flandres, boxer, bullmastiff, Chesapeake Bay retriever, dalmation, English setter, German shorthaired pointer, German shepherd dog, German wirehaired pointer, golden retriever, Great Dane, Great Pyrenees, Irish wolfhound, Kuvasz, Labrador retriever, mastiff, Munsterland, Newfoundland, Old English sheepdog, rottweiler, Saint Bernard, standard poodle
OCD Stifle	Boxer, bulldog, German shepherd dog, golden retriever, Great Dane,Irish wolfhound, Labrador retriever, mastiff, rottweiler
OCD Tarsus	Labrador retriever, rottweiler, bullmastiff
Panosteitis	Afghan hound, Akita, American cocker spaniel, American Staffordshire terrier, basset hound, bearded collie, Bernese mountain dog, boxer, bull terrier, bulldog, Chesapeake Bay retriever, chow chow, dalmation, Doberman pinscher, English setter, English springer spaniel, giant schnauzer, German shepherd dog, German shorthaired pointer, golden retriever, Great Dane, Great Pyrenees, Irish wolfhound, Labrador retriever, mastiff, Neapolitan mastiff, Newfoundland, Rhodesian ridgeback, rottweiler, Saint Bernard, shih tzu, Weimaraner, West Highland white terrier
PL	Akita, American cocker spaniel, Australian terrier, basset hound, bichon frise, Boston terrier, bulldog, Cairn terrier, Cavalier King Charles spaniel, Chihuahua, Chinese shar pei, chow chow, flat-coated retriever, Great Pyrenees, Japanese chin, keeshond, Lhasa apso, Maltese, miniature pinscher, miniature poodle, papillon, Pekingese, Pomeranian, pug, shih tzu, silky terrier, standard poodle, toy fox terrier, toy poodle, West Highland white terrier, wirehaired fox terrier, Yorkshire terrier
UAP	Basset hound, Bernese mountain dog, Chinese shar pei, chow chow, English setter, German shepherd dog, golden retriever, Labrador retriever, mastiff, Newfoundland, Pomeranian, rottweiler, Saint Bernard

Congenital Myopathies

Disease	Breed(s)	Mode of Inheritance
Progressive (Muscular Dystrophy)
Dystrophy-like Myopathy	Siamese, European and domestic shorthair cats	X-linked
Irish Setter Myopathy	Irish setter	X-linked
Labrador Retriever Myopathy	Labrador retriever	Autosomal recessive
Muscular Dystrophy	golden retriever	X-linked
Progressive (Metabolic)
Amylo-1,6-Glucosidase Deficiency	German shepherd dogs
a-1,4-Glucosidase Deficiency	Lapland dogs
Hyperkalemic periodic paralysis	pit bull terrier
Mitochondrial Myopathy	Clumber spaniels, Sussex spaniels, Irish terrier	X-linked (Irish terrier)
Phosphofructokinase Deficiency	English springer spaniels
Other
Central Core Disease	dogs
Dancing Doberman Syndrome	Doberman pinscher
Dermatomyositis	collie, Shetland sheepdog
Familial Myoclonus	Labrador retriever
Myasthenia Gravis	Dogs: Jack Russell terrier, smooth-coated terrier, Springer spaniel
Myasthenia Gravis	cats
Myotonia Congenita	chow chow, West Highland white terrier, Great Dane, Staffordshire bull terrier, black Labrador	Autosomal recessive
Myotonic Dystrophy-like disease	Rhodesian ridgeback
Nemaline Myopathy	cats
Scotty Cramp	Scottish terrier, dalmatian

Breur GJ, Lust G, Todhunter RJ. Genetics of canine hip dysplasia and other orthopedic traits, in Ruvinsky A, Sampson, J (eds): The Genetics of the Dog. New York, NY, CABI Publishing, 2001, pps 267-298.

‡

LaFond E, Breur GJ, and Austin CC. Breed susceptibility for developmental orthopedic diseases in dogs. Journal of the American Animal Hospital Association 2002; 38: 467-477.

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