Musladin-Lueke syndrome (previously known as Chinese Beagle syndrome) is a hereditary disorder that affects beagles that manifests in extensive fibrosis of the skin and joints. It is named after beagle breeders Anton Musladin and Ada Leuke. It is caused by a number of recessive mutations affecting fibrillin-1, a major component of microfibrils. [1] It affects several organ systems, including the skeleton, heart, skin, and muscle. According to the American Kennel Club's Canine Health Foundation, "beagles with Musladin-Leuke syndrome are born with several defects characterized by short outer toes on the front and sometimes all four feet, high set creased ears on a flat skull with extra cartilage in them, slant narrowed eyes, and very thick tight skin with little scruff." Affected dogs are usually smaller than average, and have a very stiff gait. Seizures have also been noted in affected dogs. [2]
Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some types of arthritis, other organs are also affected. Onset can be gradual or sudden.
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder affecting about one in 2,500 people.
Canine distemper is a viral disease that affects a wide variety of mammal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and felines, as well as pinnipeds, some primates, and a variety of other species.
Ehlers–Danlos syndromes (EDS) are a group of genetic connective-tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
The Chinese Crested Dog is a hairless breed of dog. Like most hairless dog breeds, the Chinese Crested Dog comes in two varieties, with and without hair, which can be born in the same litter: the Powderpuff and the Hairless.
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.
The Australian National Kennel Council (ANKC) is the coordinating kennel club of Australia. The ANKC is a member of the Fédération Cynologique Internationale.
In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe form, can eventually cause lameness and arthritis of the joints. It is a genetic (polygenic) trait that is affected by environmental factors. It is common in many dog breeds, particularly the larger breeds, and is the most common single cause of arthritis of the hips.
The West Highland White Terrier, commonly known as the Westie, is a breed of dog from Scotland with a distinctive white harsh coat with a somewhat soft white undercoat. It is a medium-sized terrier, although with longer legs than other Scottish breeds of terrier. It has a white double coat of fur which fills out the dog's face, giving it a rounded appearance.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
Skin disorders are among the most common health problems in dogs, and have many causes. The condition of a dog's skin and coat is also an important indicator of its general health. Skin disorders of dogs vary from acute, self-limiting problems to chronic or long-lasting problems requiring life-time treatment. Skin disorders may be primary or secondary in nature, making diagnosis complicated.
Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.
The health of dogs is a well studied area in veterinary medicine.
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins. Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia, Fong disease or Turner–Kieser syndrome.
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
Canine degenerative myelopathy, also known as chronic degenerative radiculomyelopathy, is an incurable, progressive disease of the canine spinal cord that is similar in many ways to amyotrophic lateral sclerosis (ALS). Onset is typically after the age of 7 years and it is seen most frequently in the German shepherd dog, Pembroke Welsh corgi, and boxer dog, though the disorder is strongly associated with a gene mutation in SOD1 that has been found in 43 breeds as of 2008, including the wire fox terrier, Chesapeake Bay retriever, Rhodesian ridgeback, and Cardigan Welsh corgi. Progressive weakness and incoordination of the rear limbs are often the first signs seen in affected dogs, with progression over time to complete paralysis. Myelin is an insulating sheath around neurons in the spinal cord. One proposed cause of degenerative myelopathy is that the immune system attacks this sheath, breaking it down. This results in a loss of communication between nerves in lower body of the animal and the brain.
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same.
Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair.
Dogs have a wide range of coat colors, patterns, textures and lengths. Dog coat color is governed by how genes are passed from dogs to their puppies and how those genes are expressed in each dog. Dogs have about 19,000 genes in their genome but only a handful affect the physical variations in their coats. Most genes come in pairs, one being from the dog’s mother and one being from its father. Genes of interest have more than one expression of an allele. Usually only one, or a small number, of alleles exist for each gene. In any one gene locus a dog will either be homozygous where the gene is made of two identical alleles or heterozygous where the gene is made of two different alleles.