H673 Degenerative Myelopathy, DM

Degenerative Myelopathy Exon 2 (DM Exon 2)

Canine degenerative myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1B or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by a recessive mutation to the gene SOD1. A related variant specific to the Bernese Mountain Dog has also been observed. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

Degenerative Myelopathy Exon 1 (DM Exon 1) – Bernese Mountain Dog

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, known as SOD1A or as Degenerative Myelopathy Exon 1, occurs specifically in the Bernese Mountain Dog. It is caused by a recessive mutation to the gene SOD1. A related variant has been observed in a wide range of breeds. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

Degenerative Myelopathy Exon 2 (DM Exon 2) (External Patent Lab)

Canine degenerative myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1B or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by a recessive mutation to the gene SOD1.

Hereditary Necrotizing Myelopathy (HNM)

Hereditary Necrotising Myelopathy (HNM) is a degenerative neural disease that causes difficulty standing, walking and eating. The disorder is found in the Dutch Kooiker and is caused by a recessive mutation to the gene IBA57.

Leukoencephalomyelopathy – LEMP (Leonberger)

Leukoencephalomyelopathy (LEMP) is a severe, degenerative neural disorder that occurs in young dogs and causes a progressive loss of muscle coordination. The disorder is caused by a recessive mutation to the gene NAPEPLD. The variant of LEMP analysed in this test occurs in the Leonberger. A related variant is found in the Great Dane and Rottweiler.

Leukodystrophy

Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement. The disorder is caused by a mitochondrial mutation to the gene CYTB, and is found in the Australian Cattle Dog and the Shetland Sheepdog.

Neuronal Ceroid Lipofuscinosis 12 (NCL12) – Tibetan Terrier

Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 12 (NCL12), is caused by a recessive mutation to the gene ATP13A2. It is found in the Tibetan Terrier. A related variant is also found in the Australian Cattle Dog.

Hereditary Ataxia – Australian Shepherd

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, a severe neural disorder that causes loss of coordination, muscle weakness and sensory problems. Occurring in the Australian Shepherd, the disorder is caused by a recessive mutation to the gene PNPLA8. The disease is progressive, and may require euthanasia due to increasingly poor quality of life.

Neuronal Ceroid Lipofuscinosis 10 (NCL10) – American Bulldog

Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 10 (NCL10), is caused by a recessive mutation to the gene CTSD. It is found in the Amerian Bulldog.

Neuroaxonal Dystrophy (NAD), MFN2-related

Neuroaxonal Dystrophy (NAD) is a degenerative neural disease that causes nerve damage, loss of motor function and paralysis. This lethal variant of the disease, known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.

Neuronal Ceroid Lipofuscinosis 12 (NCL 12) – Australian Cattle Dog

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Australian Cattle Dog, is known as Neuronal Ceroid Lipofuscinosis 12 (NCL12), and is caused by a recessive mutation to the gene ATP13A2. A related variant also occurs in the Tibetan Terrier.

Gangliosidosis (GM1) – All Breeds

La gangliosidose (GM1) est une maladie neurodégénérative mortelle. L’enzyme lysosomale β-D-galactosidase fend les résidus terminaux de galactose d’une variété de molécules. En raison d’une mutation, l’enzyme ne peut plus être produite correctement, ce qui conduit à une accumulation de gangliosides GM1 (un type de glycolipide) dans divers tissus.

Achromatopsia 2 (Day Blindness) – Labrador Retriever

Achromatopsia (ACHM), also called Cone Degeneration Disease (CD), is a degenerative disorder of the retinas that damages cone cells and causes vision loss, colour blindness and sensitivity to light. This variant of the disease, known as Achromatopsia-2, is found in the Labrador Retriever. It is caused by a recessive mutation to the gene CNGA3. A related variant of the disorder is also found in the German Shepherd.

Neuronal Ceroid Lipofuscinosis 5 (NCL5) – Golden Retriever

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.

Neuronal Ceroid Lipofuscinosis 7 (NCL 7)

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.

Gangliosidosis (GM2 Type I) – Japanese Chin

Gangliosidosis (GM2, B variant, type 1) is a fatal, progressive neurodegenerative lysosomal storage disease caused by a deficiency of β-hexosaminidase. The enzyme is composed of a dimer of two subunits α and β encoded by genes HEXA and HEXB. GM2 gangliosidosis can be caused by defects in the genes HEXA (Tays–Sachs disease, B-variant; where only the isoform A is deficient), HEXB (Sandhoff disease, O-variant; where both isoforms are involved). Mutations within the variants of β-hexosaminidase allow a build-up of toxic substances in the nerve cells (mainly neurons). An autosomal recessive mutation in HEXA is observed in the Japanese Chin dog (also known as Japanese Spaniël).

Intervertebral Disc Disease (IVDD)

Intervertebral disc disease (IVDD) is a degenerative condition. The disease causes burstings into the spinal cord between the bones of the spinal column. The disorder is caused by a complex mutation, a FGF4 retrogene insertion, on chromosome 12.

Neuronal Ceroid Lipofuscinosis 8-2 (NCL8-2)

Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), occurs in the Australian Shepherd and German Shorthaired Pointer. It is caused by a recessive mutation to the gene CLN8. Other breeds that carry mutations for NCL8 include the English Setter, Alpenländische Dachsbracke, and Saluki

Neuronal Ceroid Lipofuscinosis 6 (NCL6) – Australian Shepherd

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.

Cortical Cerebellar Abiothrophy (NCCD) – Vizsla

Cerebellar cortical degeneration (CCD) is a neurodegenerative disease process affecting many dog breeds. The disease affects a specific area of the brain known as the cerebellum. In cerebellar degeneration, the cells within the cerebellum die, causing neurological symptoms in dogs.

This variant of the disorder, also known as Neonatal Cortical Cerebellar Degeneration (NCCD), is found in the Vizsla. It is caused by a recessive mutation to the gene SNX14.

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