H673 Degenerative Myelopathy, DM

Degenerative Myelopathy Risk Modifier (DMRM, 5 variants)

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterized by the progressive loss of neurons in the central nervous system (CNS), leading to functional impairments. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination) and paresis of the hind legs. DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.
In Pembroke Welsh Corgi (PWC) a risk modifier has been found in the SP110 nuclear body protein. When present alongside a homozygous SOD1 (DM Exon 2) mutation, this modifier may increase the risk of developing DM and clinical signs will occur at an earlier age.

Most dogs affected with DM begin to show signs at 9 years of age or older. These signs include reduced strength in the hind legs, incontinence, hyporeflexia, spasticity, and pelvic limb ataxia. The disease progressively worsens, eventually leading to complete paralysis.

When one or more SP110 Degenerative Myelopathy Risk Modifiers (DMRM) are present in a Pembroke Welsh Corgi, alongside a SOD1 mutation, clinical signs will likely start at an earlier age.

Mielopatía degenerativa Exón 2 (DM Exón 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 SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by an autosomal recessive with incomplete penetrance mutation to the gene SOD1. Although the mutation is found in many breeds, the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test. 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.

For DM in Pembroke Welsh Corgis there are also multiple Degenerative Myelopathy Risk Modifiers (DMRM) descibed in literature. These SP110 mutations are available for testing in a different package.

Mielopatía degenerativa Exón 2 (DM Exón 2) (Laboratorio externo con de Patente)

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 SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is probely caused by an autosomal recessive mutation with incomplete penetrance to the gene SOD1. The variant is found in many breeds, but the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test.

For DM in Pembroke Welsh Corgis there are also multiple Degenerative Myelopathy Risk Modifiers (DMRM) descibed in literature. These SP110 mutations are available for testing in a different package.

Mielopatía Degenerativa Exón 1 (DM Exón 1) – Boyero de Berna

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 SOD1B or as Degenerative Myelopathy Exon 1, occurs specifically in the Bernese Mountain Dog. It is caused by an autosomal recessive with incomplete penetrance 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 Encephalopathy (DEN)

Degenerative Encephalopathy with Sleep Disorders and Caudate Necrosis or simply Degenerative Encephalopathy (DEN) is a neurological condition that affects the nervous system and leads to progressive degeneration or complete destruction of neurons in the brain, specifically in the region of the brain that is important in controlling movement and some aspects of behaviour.

This neurodegenerative disease has an autosomal recessive inheritance and is observed in the Nova Scotia Duck Tolling Retriever (NSDTR, Toller).

Spongiform Leukoencephalomyelopathy (SLEM) – Border Terrier (External Lab)

La leucoencefalomielopatía espongiforme (SLEM), también conocida como síndrome del cachorro tembloroso (SPS), es una enfermedad autosómica recesiva de la raza Border Terrier. Los cachorros con esta enfermedad muestran un temblor incontrolable de sus extremidades traseras tan pronto como intentan ponerse de pie y caminar por primera vez. A medida que los cachorros crecen, los temblores pueden extenderse a todo el cuerpo y el pronóstico es generalmente malo.

Leukoencephalomyelopathy (LEMP) – Leonberger

La leucoencefalomielopatía (LEMP) es un trastorno neural degenerativo grave que ocurre en perros jóvenes y causa una pérdida progresiva de la coordinación muscular. El trastorno es causado por una mutación recesiva en el gen NAPEPLD. La variante de LEMP analizada en esta prueba se produce en el Leonberger. Una variante relacionada se encuentra en el Gran Danés y Rottweiler.

Leukoencephalomyelopathy (LEMP) – Rottweiler and Great Dane

La leucoencefalomielopatía (LEMP) es una enfermedad neurológica que afecta al sistema nervioso central, afectando a la coordinación y a la marcha. La variante de la enfermedad en esta prueba se presenta en el Gran Danés y el Rottweiler, y está causada por una mutación recesiva en el gen LEMP. Otra variante se ha observado en el Leonberger.

SynchroGait (DMRT3-related)

All horses have three naturally occurring gaits (walk, trot and gallop). Some breeds (the gaited breeds) exhibit one or more additional gaits, particularly at intermediate speeds. This ability to exhibit alternate forms of gait is called gaitedness and the DNA test for this trait is known as SynchroGait. A mutation is found in the doublesex and mab-3 related transcription factor 3 (DMRT3) gene. This gene plays a crucial role in the development of the spinal cord neurons that control limb movement and locomotion. Specifically, the gene is involved in the formation of inhibitory interneurons in the spinal cord, which are critical for coordinating muscle movements during various gaits. The mutation is seen as a major genetic factor and is seen in many horse breeds.

Alfa-manosidosis (DMAE) – Doberman

La alfa-manosidosis (DMAE) es una enfermedad metabólica grave que afecta al sistema nervioso central, lo que provoca pérdida de coordinación, temblores y, en última instancia, la muerte. El trastorno es causado por una mutación recesiva en el gen MAN2B1 y se encuentra en el Doberman.

Alfa-manosidosis (DMAE) – Gato

La alfa-manosidosis (DMAE) es una enfermedad metabólica grave que afecta al sistema nervioso central, lo que provoca pérdida de coordinación, temblores y, en última instancia, la muerte. En los gatos, la enfermedad es causada por una mutación recesiva del gen MAN2B1. La variante analizada en esta prueba se presenta principalmente en el gato persa y razas relacionadas.

Distrofia Muscular-Distroglicanopatía (TDM) – Labrador Retriever

La distrofia muscular-distroglicanopatía (TDM) es un trastorno muscular grave que causa debilidad, retraso en el crecimiento y, a menudo, la muerte. Esta variante, que se encuentra en el Labrador Retriever, está causada por una mutación recesiva en el gen LARGE1.

Distrofia Muscular Congénita (DMC) – Galgo Italiano

La distrofia muscular congénita (CMD o DM) es un trastorno muscular que causa atrofia y crecimiento deficiente. Esta variante particular de la enfermedad es causada por una mutación recesiva en el gen LAMA2. La variante analizada en estas pruebas se da en el galgo italiano. Una variante relacionada también ocurre en el Staffordshire Bull Terrier.

Distrofia muscular (MD) – Golden Retriever

La distrofia muscular (DM) es un trastorno muscular ligado al cromosoma X, equivalente a la distrofia muscular de Duchenne (DMD) en humanos. El trastorno es grave y, en última instancia, mortal, y provoca una degradación progresiva de los músculos del perro. Es causada por una mutación recesiva ligada al cromosoma X en el gen DMD.

La variante analizada en esta prueba se da en el Golden Retriever, y también se conoce a veces como Distrofia Muscular del Golden Retriever (GRMD).

Distrofia muscular (MD) – Cavalier King Charles Spaniel

La distrofia muscular (DM) es un trastorno muscular ligado al cromosoma X, equivalente a la distrofia muscular de Duchenne (DMD) en humanos. El trastorno es grave y, en última instancia, mortal, y provoca una degradación progresiva de los músculos del perro. Es causada por una mutación recesiva ligada al cromosoma X en el gen DMD.

La variante analizada en esta prueba se encuentra en el Cavalier King Charles Spaniel, y a veces se conoce como Distrofia Muscular Cavalier King Charles Spaniel (CKCS-MD).

Distrofia Muscular (MD) – Corgi

La distrofia muscular (DM) es un trastorno muscular ligado al cromosoma X, equivalente a la distrofia muscular de Duchenne (DMD) en humanos. El trastorno es grave y, en última instancia, mortal, y provoca una degradación progresiva de los músculos del perro. Es causada por una mutación recesiva ligada al cromosoma X en el gen DMD.

La variante del trastorno analizada en esta prueba se encuentra en el Corgi Galés de Pembroke (Pembroke Welsh Corgi). A veces también se conoce como distrofia muscular de Corgi (CMD).

Distrofinopatía en Labradoodle Australiano

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.

The variant of the disorder analysed in this test is found in the Australian Labradoodle. It is also occasionally known as Australian Labradoodle Dystrophinopathy.

Distrofia muscular (MD) – Border Collie

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder leads to a gradual breakdown of the dog’s muscles and is ultimately fatal. The disease is caused by an X-linked recessive mutation in the DMD gene. As an X-linked recessive disease, it primarily affects male dogs, while females may mostly be carriers.

This specific variant of the disorder is found in the Border Collie.

Leukodystrophy (CYTB-related)

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 cytochrome b (CYTB) gene, and is found in the Australian Cattle Dog and the Shetland Sheepdog.

Deficiencia de MCAD – Cavalier King Charles Spaniel

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism. A recessive mutation to the gene ACADM causes an MCAD deficiency (MCADD). This results in a build-up of medium-chain fatty acids, causing neurological symptoms such as fatigue and seizures. In dogs, MCAD Deficiency is found in the Cavalier King Charles Spaniel.

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