Neurological

Acral Mutilation Syndrome (AMS)

  • AMS is a genetic disorder that impairs sensation in the extremities of dogs (paws/paw pads) due to a lack of pain sensitivity. It manifests through severe licking, which can lead to bleeding and ulceration. The condition may progress to the loss of claws, footpads, or digits due to self-mutilation. Symptoms typically appear between 3 and 12 months of age.
  • Affected Breeds: Affenpinscher, American Cocker Spaniel, Cockapoo, English Cocker Spaniel, English Pointer, English Springer Spaniel, Field Spaniel, French Spaniel, German Pointer, German Shorthaired Pointer, Miniature Schnauzer, Old English Sheepdog

Spongiform LeucoEncephaloMyelopathy (SLEM)

  • Also called shaking puppy syndrome affects puppies at the point they start to support their own weight in attempting to walk. Border Terriers affected by SLEM show tremors in the back legs. Most affected puppies are put to sleep due to quality-of-life concerns or die young. In rare cases, affected puppies can improve over time but require intensive supportive care.
  • Affected breeds: Border Terrier

Cerebellar ataxia (CA)

  • CA is a neurological disease that affects a dog’s gait, coordination and balance. The cerebellum is the part of the brain that controls and regulates movement. With this condition, the cells in the cerebellum deteriorate, resulting in coordination and balance problems. It presents in the few weeks or months of a dog’s life and is progressive, due to quality-of-life concerns, affected dogs are usually put to sleep before the age of one.
  • Testing for this disorder is done through linkage tests, unlike DNA tests that look for specific mutations found to cause a disease. Linkage tests look for parts of unrelated DNA that are almost always inherited with the genetic mutation that causes CA.
  • Affected Breeds: Italian Spinone, Gordon Setter, Finnish Hound.

Greyhound neuropathy (GN)

  • GN is a neurological condition that appears in Greyhounds. It’s caused by the NDRG1 gene, where the protein produced by the gene is found in the fluid in the cells. It’s involved in the stress and hormone responses, cell growth and cell differentiation. The gene mutation also has a link to nerve dysfunction. Symptoms include muscle weakness, uninterested in exercise, and hopping when walking. It usually presents around 3 to 9 months old and progresses rapidly in the first year.
  • Affected Breeds: Greyhound

Exercise-induced collapse (EIC)

  • EIC is a defect in the communication of the nerves during intense exercise. For affected dogs, certain factors can trigger the dog to collapse, including the type of exercise, temperature and excitement. Affected dogs will show leg weakness followed by collapse after 5-20 minutes of heavy exercise. How badly a dog is affected will vary; some dogs will collapse after mild exercise, whilst others will only collapse now and then. The condition usually becomes present between 5 months and 3 years, but can appear later in life.
  • For Curly Coated Retrievers, researchers believe there are both environmental and genetic factors in the disease; for this breed, the test is a measure of the risk of developing the disease.
  • Affected Breeds: American Cocker Spaniel, Australian Cobberdog, Australian Labradoodle, Border Collie, Bouvier des Flandres, Boykin Spaniel, Brittany, Bulldog, Cardigan Welsh Corgi, Chesapeake Bay Retriever, Clumber Spaniel, Cockapoo, Coton de Tulear, Curly Coated Retriever, English Cocker Spaniel, German Wirehaired Pointer, Hungarian Shorthaired Pointer, Hungarian Wirehaired Pointer, Labradoodle, Labrador Retriever, Old English Sheepdog, Parson Russell Terrier, Pembroke Welsh Corgi, Rhodesian Ridgeback.

Degenerative Encephalopathy (DE)

  • DE is a neurological condition that results in the degeneration of the part of the brain responsible for movement and some areas of the dog’s behaviour. It presents as loss of coordination (problems running, jumping, or swimming), anxious and aggressive behaviours, excessive food drive and odd tail position. The symptoms progress with age, and due to quality of life, many dogs are put to sleep by 3 to 5 years of age.
  • Affected Breeds: Nova Scotia Duck Tolling Retriever

Episodic falling (EF)

  • This is a neurological condition triggered by excitement or frustration, where muscles are engaged. The dog’s muscles become locked, and the dog is unable to relax its muscles, resulting in it falling over. Dogs usually present signs of this before 1 year old, with most cases starting from 4 to 7 months. This condition can be confused with epilepsy.
  • Affected Breeds: Cavalier King Charles Spaniel

Late onset ataxia (LOA)

  • LOA is a worsening level of coordination and loss of balance, which makes movement difficult. Affected dogs tend to present the disorder from 6 to 12 months of age. Additional signs of the condition are changes in the way the dog walks, such as weaving back legs and difficulty balancing. The disease is caused by the CAPN1 gene and requires a dog to have two copies of this to be affected. Dogs with one copy of CAPN1 won’t be affected but will be carriers and can pass it on to offspring.
  • Affected Breeds: Australian Terrier, Jack Russel Terrier, Parson Russel Terrier, Russel Terrier

Hereditary cerebellar ataxia (HCA)

  • HCA affected a dog’s ability to move. Signs can start from 12 weeks of age and progress as the dog ages. Affected dogs are often put down due to concerns about their quality of life. Symptoms are uncoordinated movement and head tremors.
  • Affected Breeds: Norwegian Buhund

Degenerative myelopathy (DM)

  • DM results from the deterioration of the spinal cord structures responsible for transmitting nerve impulses. Damage can occur in any part of the spinal cord, but it is most severe in the lower back. The disease typically starts around 7 years old with a loss of coordination in the back legs and progresses to paralysis.
  • It is an autosomal-recessive condition, so dogs with two copies of the gene are at increased risk. The disease is not fully understood, and environmental or other genetic factors may also contribute to its development. Thus, dogs with or without the gene can be affected differently.
  • Affected breeds: American Eskimo Dog, American Water Spaniel, Australian Shepherd, Berndoodle, Bernese Mountain Dog, Bloodhound, Borzoi, Boxer, Canadian Eskimo Dog, Cardigan Welsh Corgi, Canaan Dog, Cavalier King Charles Spaniel, Cavapoo, Chesapeake Bay Retriever, Cockerpoo, English Cocker Spaniel, English Mastiff, English Springer Spaniel, German Shepherd Dog, Golden Retriever, Goldendoodle, Hovawart, Hungarian Kuvasz, Hungarian Pumi, Irish Soft Coated Wheaten Terrier, Jack Russell Terrier, Kerry Blue Terrier, Maltipoo, Miniature American Shepherd, Miniature Poodle, Nova Scotia Duck Tolling Retriever, Pembroke Welsh Corgi, Pug, Pyrenean Mastiff, Rhodesian Ridgeback, Rottweiler, Rough Collie, Shetland Sheepdog, Siberian Husky, Smooth Collie, , Standard Poodle, Tamaskan Dog, Toy Poodle, Welsh Terrier, White Swiss Shepherd Dog, Wire Fox Terrier

Juvenile myoclonic epilepsy (JME)

  • JME is a type of epilepsy, a neurological condition that causes seizures. Signs of the condition can start from 6 weeks to 18 months and can show as muscle jerks or twitching when sleeping or resting. It will progress to generalised seizures, which will be triggered by resting or from a visual stimulus like lights.
  • Affected Breeds: Rhodesian Ridgeback

Hereditary necrotising myelopathy (ENM)

  • ENM is a spinal degenerative disease where the white matter in the spinal cord degrades in the neck region. This affects the dog’s motor functions of the back leg muscles. It presents with hind limb paralysis, the dog is unable to place their feet, scuffed toes, excessively worn nails, shuffling and loss of coordination. This progresses to the dog being unable to walk within a few weeks of onset. Early signs start between 3 and 12 months of age. Unfortunately, this is a fatal disorder.
  • Affected Breeds: Kooikerhondje

Neuroaxonal dystrophy (NAD)

  • NAD is a condition that affects the nervous system and gets worse with age. It can present from 6 months old. The affected dogs may walk unusually, be dull or nervous, be very vocal and not have control of when they go to the toilet. Other symptoms are problems with sight and muscle loss. Due to the seriousness of the condition, dogs are often put to sleep within a year of being diagnosed. This disease only affects dogs with two copies of the abnormal gene.
  • Affected Breeds: Papillon, Spanish Water Dog, Rottweiler

L2-hydroxyglutaric aciduria (L2-HGA)

  • This is a neurometabolic disorder, a metabolic disorder affecting the nervous system. It presents with elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Typically, signs present at 6 months to a year old, although they can start later. Signs are epileptic seizures, unstable gait, tremors and muscle stiffness after exercise or excitement.
  • Affected Breeds: American Bully, Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier.

Neonatal cerebellar cortical degeneration (NCCD)

  • This neurodegenerative disease results from a damaged cerebellum, the part of the brain used for movement and balance. There is minimal progression to the disease. Puppies show the signs from 3 weeks of age as they are slower and less coordinated than unaffected puppies. They will fall more frequently and are unable to walk correctly. Other signs are tremors, uncoordinated body movements, and spastic paralysis.
  • Affected Breeds: Beagle, Hungarian Vizsla, Hungarian Wirehaired Vizsla

Benign Familial Juvenile Epilepsy (BFJE)

  • BFJE is a neurological disease characterised by seizures in puppies from 8 weeks old, resolving by 13 weeks. Although some adult cases have been observed. This is one of many forms of epilepsy in all dog breeds.
  • Affected Breeds: Lagotto Romagnolo

Laryngeal Paralysis Polyneuropathy (LPN)

  • Neuromuscular disease that causes nerve loss. It leads to the dog being unable to support their weight. Signs include increasing exercise intolerance, walking abnormally, and degeneration of the back leg muscles. Noisy breathing, difficulty swallowing and changes to their bark. There are several variations of this disease, and they present at different life stages.
  • LPN1 usually presents at 2-4 years old. LPN2 presents as early as one year old, but some dogs don’t show signs till later in life or not at all. The average age of onset is 6 years old. LPN2 is responsible for approximately 20-25% of cases of polyneuropathy in Leonbergers. LPPN3 affects puppies.
  • LPN1 Affected Breeds: Leonberger, St Bernards
  • LPN2 Affected Breeds: Leonberger
  • LPPN3 Affected Breeds: Labrador, Leonberger, St Bernards

Neuronal ceroid lipofuscinosis (NCL)

  • Lysosomes are structures within cells that control the breakdown and recycling of cellular material, and they produce enzymes that are a part of the recycling process. The mutation affects the efficiency of the process and causes the build-up of intermediate levels that can be toxic to cells, especially nerve cells. NCL has several genetic variations of the disease.
  • Affected dogs present as normal at birth but begin to decline from 1-2 years old, and the age and severity of the condition can vary greatly between dogs. It presents with progressive motor decline (seizures and uncoordinated muscle movements), cognitive decline (loss in memory, attention and learning) and abnormal behaviour. Visual impairments may present as well.
  • For the Australian Shepherd, the mutation is present in the CLN6 gene, meaning it is in the cell structure of the endoplasmic reticulum. This is where proteins are made and modified before being transported throughout the body. CLN6 is thought to help move proteins directly to the lysosomes.
  • NCL6 Affected Breeds: Australian Shepherd, Minatare American Shepherd, Minatare Australian Shepherd, Toy Australian Shepherd
  • NCL8 Affected Breeds: Alpine Dachsbracke, Australian Cattle Dog, Australian Shepherd, English Setter, Gordon Setter, Irish Red Setter, Minatare American Shepherd, Saluki
  • NCL12 Affected Breeds: Australian Cattle Dog, Tibetan Terrier

Lafora’s Disease

  • Lafora’s disease is a form of epilepsy that develops from a faulty enzyme. The enzyme should break down carbohydrates, but in affected dogs, a toxic starch material builds up in the cells, particularly nervous, liver and muscle tissues. This results in the dog rapid shuddering or jerking, which can be caused by loud noise, flickering lights or sudden movements. Dogs typically show signs around 5-7 years of age, and it progresses over time. Other neurological problems tend to develop, such as loss of control of movement, blindness, and dementia.
  • Affected Breeds: Basset Hound, Beagle, Cardigan Welsh Corgi, Chihuahuas, French Bulldog, Miniature Longhaired Dachshund, Miniature Smoothhaired Dachshund, Miniature Wirehaired Dachshund, Newfoundland, Pembroke Welsh Corgi, Wirehaired Dachshund

Leukoencephalo-Myelopathy (LEMP)

  • LEMP is a neurological disorder that affects the white matter of the central nervous system. It usually presents when dogs are young (1- 4 years old). Its symptoms are problems walking, not walking in a straight line, knuckling (walking on the tops of the paws), and dragging paws. Dogs generally become quite immobile over time.  Dogs are diagnosed with an MRI, which will show the extent of the damage to the spinal cord. There are some cases where dogs have two copies of the affected gene but never develop the condition. There are several variations of the disease.
  • LEMP Affected Breeds: Great Dane, Leonberger, Rottweiler
  • LEMP2 Affected Breeds: Rottweiler

Spinocerebellar ataxia (SCA)

  • SCA is the degeneration in the spinal cord, specifically in the areas that carry information to the brain. Due to life quality most dogs diagnosed with this are put to sleep. Signs present as early as 2 to 6 months of age and are usually coordination related such as pelvic limb (back legs) swaying when walking, difficulty jumping and climbing stairs, frequent falling from balancing issues and trouble getting up. SCA is related to a mutation in the CAPN1 gene and can occur from an autosomal recessive mutation.
  • Affected Breeds: Alpine Dachsbracke, Australian Terrier, Beagle, Italian Spinone, Jack Russel Terrier, Parson Russel Terrier

Sensory Neuropathy (SN)

  • SN is a severe progressive degeneration of the sensory and motor nerve cells. Symptoms include knuckling (walking on the tops of the feet), self-mutilation, excessive licking, progressive loss of muscle control, and loss of sensation in the limbs. As the disease progresses, the dog will also suffer from incontinence and regurgitation. Age of onset can be from 2-7 months of age. Due to quality-of-life concerns, most dogs are put to sleep before two years of age.
  • Affected Breeds: Border Collie.

Neonatal encephalopathy with seizures (NE/NEWS)

  • NEWS is a recessive developmental brain disease that affects puppies. The puppies are born small, don’t develop normally and will struggle to nurse. The nursing will improve after a few days, but by 3 weeks old, they will present with weakness, poor movement, whole body tremors and have a wide stance with weak muscles. The affected puppies will have delayed reactions to stimulants and not interact with mum and littermates as expected. By 4-6 weeks of age, the puppy will be suffering from generalised seizures. By 7 weeks, affected puppies are usually euthanised or have passed away.
  • Breeds Affected: Australian Cobberdog, Australian Labradoodle, Berndoodle, Cockapoo, Goldendoodle, Labradoodle, Miniature Poodle, Standard Poodle, Toy Poodle.

Gangliosidosis (GM1)

  • GM1 is a fatal disease that affects puppies. It affects the nervous system, resulting in poor muscle control, seizures and temperature change. Unfortunately, dogs with this condition don’t usually live past 6 months old. It’s not recommended to breed dogs that are both carriers of the mutated gene.
  • Affected Breeds: Alaskan Husky, Portuguese Water Dog, Shiba, Siberian Husky

Gangliosidosis (GM2 – Type 0)

  • Gangliosidosis effects lysosomal storage from a beta galactosidase deficiency. It presents with progressive neurological deterioration. Various mutations of this are specific to different breeds. Dogs with GM2 have a lack of an enzyme in their brain that breaks down old molecules with a buildup in the brain and affecting the nervous system. The resulting symptoms vary between dogs but include lack of coordination, depression, behavioural changes, head shaking, mental dullness, seizures, blindness, deafness, and developmental delay. The neurological symptoms typically present around 9-12 months of age. Once symptoms start, the disease progresses rapidly, and dogs usually pass between 18 -23 months.
  • Affected Breeds: Australian Labradoodle, Cockapoo, Goldendoodle, Japanese Chin, Miniature Poodle, Shiba, Standard Poodle, Toy Poodle.

Multidrug Resistance gene 1 (MDR1)

  • This inherited condition causes affected dogs to be sensitive to certain drugs such as ivermectin (an anti-parasitic) and loperamide (an opioid used to treat diarrhoea). In unaffected dogs, the blood-brain barrier protects brain cells from various drugs and toxins. There is a protein called P-glycoprotein that pumps drugs and toxins from the cerebrospinal fluid (the fluid that circulates around the brain and spine) back into the blood circulation. The MDR1 mutation results in this protein being inactive, which allows drugs and toxins to remain within the cerebrospinal fluid and potentially suppress brain activity. Dogs affected by this mutation that are exposed to these drugs may require extended veterinary care and, in severe cases, may face fatal outcomes.
  • Affected Dogs: Australian Bulldog, Australian Cattle Dog, Australian Koolie, Australian Shepherd, Bearded Collie, Border Collie, Bulldog, Chinook, Danish-Swedish Farmdog, East Siberian Laika, English Shepherd, German Shepherd Dog, McNab Dog, Minatare American Shepherd, Miniature Australian Shepherd, Old English Sheepdog, Rough collie, Shetland sheepdog, Silken Windhound, Smooth Collie, Standard Poodle, Toy Australian Shepherd, Wäller,  Whippet, White Swiss Shepherd

Alaskan Malamute polyneuropathy (AMPN)

  • AMPN leads to reduced stimulation of the peripheral nervous system, followed by nerve degeneration and gradual muscle deterioration. Symptoms typically appear within the first two years of a dog’s life and include exercise intolerance, inability to move limbs, and loss of reflexes. Affected dogs might fall, walk abnormally, or on the tops of their feet. Dogs must possess two copies of the gene to be affected.
  • Breeds Affected: Alaskan Malamute, Greyhound, St Bernard, Leonberger

Juvenile laryngeal paralysis & Polyneuropathy (JLPP)

  • JLPP is a condition where the nerves deteriorate. The nerve that controls the larynx (voice box) muscles is usually affected first. This then leads to muscle weakness and air flow obstruction to the lungs after exercise or when the dog is hot. Signs include noisy breathing, choking and regurgitation of food and water. Some dogs suffer from a wobbly gait due to leg muscles being affected, and they can also have eye development abnormalities. Signs are usually noticed at a few weeks of age.
  • Affected Breeds: Rottweiler, Russian Black Terrier, Alaskan Husky

Muco-polysaccharidosis type IIIB (MPSIIIB)

  • This condition affects the body’s ability to break down large sugar molecules. When there is a build-up of this, it can lead to cell function disruption. Particularly affecting the brain’s function. Signs show when the dog is 2-4 years old and affects the cerebellum (part of the brain that controls movement), the symptoms including tremors, difficulty balancing, walking and struggling on or around obstacles such as stairs.
  • Affected Breeds: Schipperke

Lysosomal storage disease (LSD)

  • LSD is a metabolic disorder that results in the dysfunction of the lysosomes, which control the recycling of unwanted material in the body into useful material. When lysosomes are faulty, the build-up of unwanted material results in a lack of cell function. Signs in the dog are staggering, an uncoordinated gait, involuntary eye movements, and behaviour changes such as aggression. Signs can begin from 3 or 4 months of age to 4 years or more. It’s a progressive condition.
  • Affected Breeds: Dalmatian, Doberman Pinscher, Lagotto Romagnolo, Weimaraner
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