Newsletter | February 2018 GENETIC NEWSLETTER

Acute Respiratory Distress Syndrome (ARDS) Crufts 2018 Dalmatian Acute Respiratory Distress Syndrome We are very pleased to announce that we will be at Crufts (ARDS) is an inherited fatal respiratory this year, which is always an exciting opportunity not to be disease affecting the Dalmatian breed missed. We always receive samples by post and we talk to characterised by impaired pulmonary gas you over the phone and by email, however at Crufts we will exchange, which leads to inflammation be able to see you and discuss your requirements in more and carries substantial risk of death. The detail. Again our ever popular 10% Crufts discount will be main clinical signs include progressive there for you. Visit us at Crufts 2018, Hall 3 Stand 7A. abnormally rapid breathing (tachypnea) and breathing difficulty (dyspnea) leading to a severe respiratory distress and eutha- Sensory Neuropathy (SN) nasia. Prevalence: it is estimated that 1.7 % of Dalmatians are Border Collie carriers.

Sensory Neuropathy (SN) is an inherited neurological disease Acral Mutilation Syndrome (AMS) affecting the Border Collie breed. The disease is character- English Cocker Spaniel, English Springer Spaniel, Ger- ised by degeneration of sensory man Shorthair Pointer, Cockapoo (English), English Point- and motor nerve cells. Symptoms er and French Spaniel begin between the age of 2 and 7 months and include: knuckling of Acral Mutilation Syndrome (AMS) the feet, wounds caused by self is an inherited sensory neuropathy chewing or licking of the limbs due disorder affecting several sporting to lack of feeling, progressive loss breeds. The disease is character- of coordination (ataxia), progressive ised by insensitivity to pain in the loss of sensation occurs in all limbs, feet (acral analgesia) which can urinary incontinence and regurgita- be associated with sudden and tion can occur in the later stages of the disease. Affected intense licking, biting and severe are usually euthanized around the age of 2 years. self-mutilation of the feet, while proprioception, motor abilities and POAG / PLL Primary Open Angle Glaucoma spinal reflexes remain intact. Affected puppies look smaller than (POAG) and Primary Lens Luxation (PLL) their healthy littermates. Symptoms maybe followed by further Shar Pei (Chinese Shar-Pei) complications such as infections, ulceration, nail loss, swollen paws and fractures. It appears that, in Shar Pei, both Primary Open Angle Glaucoma (POAG) and Primary Juvenile Myoclonic Epilepsy (JME) Lens Luxation (PLL) are caused by the same Rhodesian Ridgeback mutation and a DNA test is now available at Laboklin. The disease is characterised by Affected dogs start showing symptoms between limited drainage of eye fluids which leads the age of 6 weeks and 18 months. Symptoms in- to increased pressure causing pain and blindness. The eyes clude frequent myoclonic jerks or twiches espe- become noticeably larger and the eye lens starts wobbling cially when the is sleeping or resting. Photo and may even become completely dislocated. Age of onset sensitivity has also been noticed. Most affected is 4-6 years. dogs will also develop more severe generalized and tonic clonic seizures. Shar Pei auto-inflammatory disease (SPAID) Subacute Necrotizing Encephalopathy (SNE) Shar Pei (Chinese Shar-Pei) Yorkshire Terrier Shar Pei Autoinflammatory Disease (SPAID) in an inherited Subacute Necrotizing Encephalopathy (SNE) is a disease characterised by multiple signs of inflamation includ- fatal neurodegenerative disorder in Yorkshire ter- ing Familial Shar-Pei Fever (FSF), Arthritis, Vesicular Hyalu- riers. The disease is characterised by abnormal ronosis, Otitis and Amyloidosis. gait, central visual deficits and reduced mental state. A DNA test is available at Laboklin for SNE. www.LABOKLIN.co.uk LABOKLIN UK & IRELAND 125 Northenden Rd, Manchester, M33 3HF, United Kingdom Tel: 0161 2823066 email [email protected] GENETIC NEWSLETTER Spongy Degeneration with Cerebellar Ataxia (SDCA1 and SDCA2) Belgian Shepherd Leonberger Polyneuropathy (LPN1 & LPN2) Spongy Degeneration with Cerebellar Atax- ia, (SDCA) is an inherited disease affecting Symptoms start around the age the Belgian Shepherd breed. It is a severe of 2-4 years and progress quick- neurodegenerative disease with monogenic ly. Symptoms include wobbly autosomal recessive inheritance. The dis- gait and paralysis especially in ease is characterised by rapidly progressing the backhind areas. Affected ataxia starting around the age of 5-8 weeks. dogs are not able to stand up Puppies are usually euthanised by the age especially in the late stages of of 8-12 weeks. There are two different muta- the disease. Other symptons in- tions reponsible for causing the disease SDCA1 and SDCA2. clude noisy breathing, strange barking voice and difficulties DNA testing is available for both mutations at Laboklin. in swallowing. There are two different mutations reponsible for causing the disease LPN1 and LPN2. DNA testing is avail- able at Laboklin for both mutations. Dystrophic Epidermolysis Bullosa (DEB) Central Asian Shepherd Dilution Coat Colour (D-Locus) Re-visited , Rhodesian Ridgeback and Sloughi Dystrophic Epidermolysis Bullosa (DEB) is a rare inher- The dilution mutation is responsible for diluting black coat ited mechanobullous disorder colour to blue and brown to lilac or isabella. This mutation affecting the Central Asian is found in all dog breeds, however, in Chow Chow , Rhode- Shepherd breed. The disease is characterised by blistering sian Ridgeback and Sloughi there is another mutation that in the skin and the mucosal causes the dilution. We renamed the first mutation to D1 and membranes. the new mutation is now named D2. In the above breeds you need to test for both D1 and D2 for complete analysis. New DNA tests Hereditary Nasal Parakeratosis (HNPK) Alexander Disease (AxD) in Labrador Retriever Greyhound Acute Respiratory Distress Syndrome ( ARDS ) Catalase Deficiency (CAT) / Acatalasia in Beagle Leukocyte Adhesion Deficiency III (LAD III) in GSD Hereditary nasal parakeratosis (HNPK) Lundehund-Syndrome ( Lymphagetasia ) in Lundehund is an inherited skin disorder affecting Merle (Dapple) test now checks 5 alleles: M (merle), Mh the greyhound breed. The disease is (Harlquin-merle), Ma (atypic merle), Mc (cryptic merle characterised by development of scales and m (non-merle) and crusts on the nosepad. Occasion- Nemaline Myopathy (NM) in American ally affected dogs also develop painful Panda white spotting in German Shepherd fissures on the nose. The mode of inheritance is recessive, Paroxysmal Dyskinesia (PxD) in Soft Coated Wheaten which means that the dog must inherit two copies of the Terrier mutation (one from each parent) to develop the disease. crd1-PRA in American Staffordshire Terrier crd2-PRA in American Pitbull Terrier Lafora Disease (LD) / Myoclonic Epilepsy Raine Syndrome in Border Collie Beagle and Miniature Wire haired Dachshund Severe combined Immuno-Deficiency (SCID) in Frisian Water Dog, Jack Russell Terrier, Parson Russell Terrier Lafora disease (LD) / Myoclonic Epilepsy Spinal Dysraphism (NTD) in Weimaraner is a late onset inherited neurological disor- Spondylocostal Dysostosis (Comma Defect) in Miniature der affecting a number of breeds including Schnauzer Beagle and Miniature Wirehaired Dachs- van den Ende-Gupta Syndrom (VDEGS) in Fox Terrier and hund ( MWHD ). Symptoms starts after the Toy Fox Terrier age of 5 years and include a characteristic quick and invol- Warbung Micro Syndrom 1 (WARBM1) in untary jerking of the head backward (myoclonus), which can occur spontaneously or be triggered by noise, light flashing New Kennel Club DNA testing Schemes or flickering, jaw smacking, panic attacks, impaired vision, JLPP in Rottweiler and Russian Black Terrier aggression and urinary incontinence. High pitched vocalisa- GM1-Gangliosidosis in Portuguese Water Dog tions have been seen in affected dogs. Symptoms can pro- HUU in Dalmatian and Hungarian Wirehaired Vizsla gress to epilepsy and seizures. The disease is caused by a CMO in Scottish Terrier mutation which causes intracellular accumulation of abnor- PLL, LOA and SCA in Jack Russell Terrier mal glycogen (Lafora bodies). Age of onset: after 5 years of LPN1 in Leonberger ages. JME in Rhodesian Ridgeback POAG/PLL in Shar Pei At the moment we only accept blood in EDTA blood tubes for NAD and CHG in Spanish Water Dog this test. We cannot accept swabs at this time. AMS in English Cocker Spaniel and Springer Spaniel www.LABOKLIN.co.uk