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Go back to: Health & Genetics

Canine Genetic Disorders

By Judy Huston

Canine Genetic Diseases Affecting

The German Shepherd Dog

 

In preparation for the Genetics Seminar to be conducted by Dr. George Padgett and held at our National Specialty Show on Friday September 17, I thought it might help all of us to have a little groundwork laid before the fact. (And for people not attending the seminar, this article may help you to understand more about the diseases affecting our dogs.)

There are 532 genetic diseases listed in Dr. Padgett’s book, The Control of Canine Genetic Disease. He includes 308 breeds from the AKC and UKC registries. Of these 532 genetic diseases, the German Shepherd Dog is predisposed to 132 of them – the only breeds predisposed to more are the mixed breeds and the Poodles.

As excerpted directly from Dr. Padgett’s book, "The diseases reported, as well as the breeds reported to have had affected individuals, were obtained from the forty-five books listed in the Reference section of this book, information obtained from the (OFA), the Veterinary Medical Data Program at Purdue University, cases presented at Michigan Sate University and those reported in approximately 1,100 research papers, beginning in 1934.

"The criteria for including a disease as genetic includes any or all of the following:

  1. The disease has been reported as being genetic in the breed involved.
  2. The disease has been reported to be genetic in other breeds.
  3. The disease has been reported as being genetic in other species.
  4. The disease follows family lines, and it occurs in multiple generations of a given line.

"These criteria may be considered to be very loose or minimal as requirements for categorizing a disease as genetic and may have resulted in a few errors among the diseases included. However, the goal of this book is to prevent genetic diseases in breeding kennels as well as within breeds. If there are errors here, they are on the side of preventing the spread of a disease by recognizing the disorder as being genetic or very likely to be genetic.

"The criteria for including a breed as having a genetic disease are fairly straight-forward. Occurrence must be reported in at least one member of the breed by an adequately qualified veterinary diagnostician, be it a clinical specialist, an endocrinologist, a pathologist or another well-trained individual…."

So, if you personally know that one of your dogs – or someone else’s dog has or had a disease not listed here, it is because it was not reported in an official capacity which would have allowed it to be included. Please start a supplement of your own to share with other White Shepherd owners and breeders so we can be as accurate as possible about what affects our breed. Please forward any additional information about the diseases in our dogs to me to add to our official list and so I can include it in the survey we plan to do.

As you will see as you go through Dr. Padgett’s list of Canine Genetic diseases, the diagnostic systems in which the largest number of diseases occur for German Shepherd Dogs are:

  1. The Skeletal System
  2. Ocular (eyes)
  3. Integumentary (skin)
  4. Heart and Vascular
  5. Neurological
  6. Alimentary (Digestive System)

I will list the diseases our dogs are subject to along with the Mode of Inheritance and the Age at Onset. These will be listed according to the diagnostic system under which it falls. At some future time, I’d like to group the diseases by Age at Onset to help us more easily identify problems in our dogs.

At the end of the list, there will be a brief list of definitions of terms some of us may not be familiar with but which may help us in understanding Dr. Padgett’s presentation. Note: The diseases in bold type are diseases we "know" have been reported in our White Shepherds. If you know others, let me know so I can make the appropriate changes.

AL: Alimentary (Digestive System)
German Shepherd Dogs are predisposed to 9 of the 27 diseases listed.

Mode of
Inheritance < Age at Onset * Name of Disease

Undetermined < 4 years * Basenji Enteropathy (Enteritis)
Undetermined < 9 years * Canine Sprue (Chronic Diarrhea)
Undetermined < 10 weeks * Esophageal Hypomobility (Vomiting)
Undetermined < 7 years * Gastric Dilatation – Volvulus (Bloat and Torsion)
Undetermined < 8 years * Idiopathic Canine Colitis (Weight loss, vomiting, bowels)
Undetermined < 6 months * Megaesophagus (Esophageal Achalasia – vomiting)
Undetermined < 8 years * Perianal Fistula (Anal Furunculosis) (Infection, lick/scoot)
Undetermined < 1 year * Small Intestinal Bacterial Overgrowth Syndrome (SIB0)
Undetermined < 6 years * Sialoceles (Ranula) Swelling of the ventral cervical …region.

BE: Behavioral Diseases
German Shepherd Dogs are predisposed to 1 of the 3 diseases listed.

Undetermined < 3 years *Aggressiveness * Nervous and fearful

CA: Cancer
Of the two types of cancers listed (Histiocytosis -- Malignant Histiocytosis, Systemic Histiocytosis and Mastosarcoma), the GSD is not one of the breeds predisposed to get it according to Dr. Padgett’s sources.. Yet, we know from our own experience that our dogs are dying from it. Is it our "white" dogs? Is the cancer environmentally triggered and therefore excluded from a book about genetics? It is possible our
survey/questionnaire will shed light on this for us.

EN: Endocrine Disease
German Shepherd Dogs are predisposed to 3 of the 8 diseases listed.

Undetermined < 2 years * Hypothyroidism (Thyroid)
Undetermined < 4 weeks * Primary Hyperthyroidism (Lameness, difficulty walking)
Undetermined < 5 years * Primary Hypoadrenocorticism (Addisons – affecting the adrenals)

HB: Hearing and Balance
German Shepherd Dogs are predisposed to both of the diseases listed.

R D Und < 3 months * Deafness
Undetermined < 3 months * Vestibular Disease (head tilt, loss of balance, circling…)

HL: Hematopoietic and Lymphatic Disease (Blood and lymph system)
German Shepherd Dogs are predisposed to 4 of the 41 diseases listed
.

X/Recessive Birth * Hemophilia A (Excessive bleeding – may die)
X/Recessive Birth * Hemophilia B (Failure of blood to clot – may die)
Dominant < 6 months * Pelger–Huet Anomaly
Recessive < 1 year * von Willebrand’s disease (prolonged bleeding – may be mild
moderate or severe – may cause death)

HV: Heart and Vascular
German Shepherd Dogs are predisposed to 10 of the 21 diseases listed.

Undetermined < 6 years * Dilated Cardiomyopathy (DCM) numerous symptoms.
Polygenic < 6 months * Inherited Ventricular Tachcardia (GSD Ventricular Arrhythmia)
Undetermined < 1 year * Mitral Valve Defect (MVD) (Mitral Stenosis)
Polygenic Birth * Patent Ductas Arteriosus (PDA) (Murmurs, exercise weakness)
Polygenic Birth * Persistent Right Aortic Arch. (Vascular Ring Anomaly)
Polygenic < 1 year * Pulmonic Stenosis (PS) (Murmurs, enlarged right side of heart)
Polygenic < 1 year * Subaortic Stenosis (Murmurs, weakness, sudden death)
Polygenic < 3 months * Tetralogy of Fallot (Murmurs, heart failure, sudden death)
Undetermined < 1 year * Tricuspid Valve Dysplasia (Murmurs, lethargy, etc.)
Polygenic Birth * Ventricular Septal Defect (A hole in the heart wall…)

IM: Immune System Diseases
German Shepherd Dogs are predisposed to 8 of the 16 diseases listed.

Undetermined < 1 year * Atopic Dermatitis (Rough itchy, oozing skin)
Undetermined < 4 years * Autoimmune Hemolytic Anemia (Attack of own red blood cells)
Undetermined < 1 year * Demodicosis (Demodex – localized infection)
Undetermined Varies * Discoid Lupus Erythematosus (DLE) (Skin disorders)
Undetermined < 10 years * Idiopathic Thrombocytopenic Pupura (hemmorages, etc.)
Undetermined < 6 years * Immune Mediated Polygenicathritis (Inflammation of joints)
Undetermined Birth * Selective IgA Deficiency (Lack of protection against infection)
Undetermined < 9 years * Systemic Lupis Erythematosus (SLE) (Numerous symptoms)

IN: INTEGUMENTARY DISEASES (Skin)
German Shepherd Dogs are predisposed to 19 of the 66 diseases listed.

Undetermined Varies * Acral Mutilation Syndrome (self-mutilation especially by dogs who bored and don’t have any other outlet).
Undetermined Varies * Bullous Pemphigoid (ulcers)
Undetermined < 2 years * Contact Dermatitis (Lesions, etc.)
Undetermined < 1 years * Dudley Nose (Fading nose to whitish or chocolate color)
Dominant < 10 weeks * Ehlers Danlos Syndrome (easily torn skin)
Undetermined < 8 years * GSD Pyoderma (Skin, hair loss, pigment loss, etc.)
Undetermined < 11 months * GSD Footpad syndrome (Ulceration due to tender footpads)
Undetermined Birth * Idiopathic Onychomadeis (Sloughing of nails)
Undetermined < 5 years * Onychodystrophy (Loss of nails – infection)
Undetermined < 4 years * Pemphigus Foliceus (Scaly skin starts on ears or face)
Undetermined < 2 years * Pemphigus Vulgaris (Ulcerations/groin)
Undetermined < 1 year * Primary Seborrhea (Flaking malodorous skin)
Undetermined < 1 year * Sebaceous Adenitis (SA) (Hair brittle, matted, skin greasy)
Undetermined < 2 years * Subcorneal Pustular Dermatosis (Pustules)
Undetermined < 8 years * Symmetric Lupid Onychodystrophy (Sloughing claws/sec. Infections)
Recessive < 3 months * Tryosinemia (Cloudy corneas, conjunctivitis & cataracts)
Recessive or < 6 months * Umbilica Hernia (Outpouching of skin over "belly button")

Polygenic

Undetermined < 3 years * Vitiligo (Depigmentation of lips, nose, etc.)
Undetermined < 6 weeks * Zinc-Responsive Dermatosis (rough cracking oozing skin)

LP: Liver-Pancreas
German Shepherd Dogs are predisposed to 5 of the 8 diseases listed.

Undetermined < 5 years Chronic Active Hepatitis (Vomiting, weight loss, etc.)
Undetermined < 3 years Diabetes Mellitus (Excessive sugar accumulates in blood & urine)
Recessive < 1 year Pancreatic Hypoplasia (Exocrine Pancreatic Insufficiency) (weight
loss and chronic diarrhea)
Undetermined < 1 year Portosystemic Shunt (Extra vessels allows blood to bypass liver)
Undetermined < 1 year Portosystemic Shunt (Intrahepatic) (Abnormal blood vessels)

MU: Muscle Diseases
German Shepherd Dogs are predisposed to 5 of the 20 diseases listed.

Undetermined < 4 months Biceps Brachii Tendon Displacement (Lameness after exercise)
Undetermined > 1 year Fibrotic Myopathy (Lameness in muscles which affect the gait)
Recessive < 6 months Hereditary Myopathy (Lab Retriever Myopathy – muscle stiffness)
Undetermined > 1 year Masticatory Myositis (Atrophic Myositis) (pain & visible swelling – dog might be reluctant to open mouth and to eat)
Undetermined Birth Type II Fiber Hypotrophy of GSD (Abnormality of the gait caused by
muscle pathology)

NE: Neurologic Diseases
German Shepherd Dogs are predisposed to 9 of the 60 diseases listed.

Undetermined < 9 years Cauda Equina Polygenicradiuloneuritis (Muscle atrophy etc.)
Recessive < 20 weeks Cerebellar Degeneration (Lack of coordination, ataxia, paralysis, death)
Recessive < 6 months Congenital Myasthenia Gravis (Severe muscle weakness)
Undetermined > 1 year Degenerative Myelopathy (GS Myelopathy) (Results in paresis)
Undetermined < 2 years Dysautonomia (Urinary incontinence/difficult defecation etc.)
Undetermined > 1 year Epilepsy (seizures)
Recessive > 1 year Giant Axonal Neuropathy (Rear limb paresis, atrophy, etc.)
Recessive < 8 months Glycogenosis (Glycogen Storage Disease – Type II (Pompe’s Disease
< 6 months and Type III Cori’s Disease)
Undetermined < 13 months Spinal Muscular Atrophy (Weakness and wasting of all limbs, etc.)

OC: Ocular Diseases
German Shepherd Dogs are predisposed to 23 of the 53 diseases listed.

Recessive < 3 years Cataracts (Lens opacity)
Undetermined < 2 years Central Progressive Retinal Atrophy (CPRA) (Optical defect)
Recessive < 1 year Collie Eye Anomaly (Can cause retinal detachment & blindness)
Undetermined Varies Corneal Dystrophy (Corneal opacity interfering with vision)
R/?Undetermined < 1 year Demoid (Small patch of skin on the cornea)
Undetermined < 6 months Distichiasis (Abnormal location of eyelashes causing irritation)
Undetermined < 6 months Ectropion (Turning out of the eyelids causing eyeball exposure)
Undetermined < 1 year Entropion (Turning in of the eyelids causing lashes to rub eyeball)
Undetermined < 3 months Eversion of the Nictitating membrane (Eversion of 3rd eyelid)
Undetermined < 3 years Glaucoma (Increased pressure in globe, pain & often blindness)
Undetermined < 1 year Imperforate Lacrimal Punctum (Epiphora) (Tears spill on face)
Undetermined < 1 year Keratoconjunctivitis Sicca (KCS) (Inadequate tear production…)
Undetermined < 1 year Lens Luxation (Dislocation of the lens from its normal site)
Undetermined Birth Macropalpebral Fissure (Macroblepharon, Diamond Eye)
Undetermined Birth Microphthalmia (An anomaly in development – abnormal eyeballs)
Undetermined < 3 months Optic Nerve Hypolasia (Visual impairment or blindness)
Undetermined < 1 year Pannus (Superficial Stromal Keratitis) (Possible obscured vision)
Undetermined < 3 months Persistent Hyperplastic Primary Viterous (PHPV) (Vision problems)
Undetermined < 3 months Persistent Pupillary Membranes (PPM) (Impaired vision or blindness..)
Undetermined Varies Progressive Retinal Atrophy (PRA) (Degeneration of the vision cells)
Undetermined < 1 year Retinal Dysplasia (Folds)
Recessive < 1 year Retinal Dysplasia (Geographic Detachment) (Blindness results)
Undetermined < 3 years Uveodermatologic Syndrome (Loss of pigment around eyes, nose, etc.)

RP: Reproductive Diseases

German Shepherd Dogs are predisposed to 4 of the 14 diseases listed.

Recessive Birth Anasarca (Subcutaneous collection of fluid – pup may be 4 to 5 times normal size at birth)
Recessive/ < 3 months Cryptorchidism (An absence of testicles….)
Undetermined < 10 weeks Preputial Stenosis (Phimosis)
XX-XXY Birth Pseudohermaphrodite (Own sex as well as opposite sex characteristics)

RS: Respiratory Diseases
German Shepherd Dogs are predisposed to none of the 9 diseases listed.

SK: Skeletal Diseases

German Shepherd Dogs are predisposed to 25 of the 65 diseases listed.

Undetermined < 1 year Bone Cysts (Pathological fractures are common…)
Undetermined < 1 year Calcinosis Circumscripta (Abnormal deposits of calcium…)
Undetermined Birth Cleft Lip/Cleft Palate (A fissure or cleft in roof of mouth or
upper lip)
Recessive < 6 months Craniomandibular Osteopathy (CMO) (Abnormal jaw bone growth…)
Recessive < 3 months Pituitary Dwarfism (Reduced size, possible physical deformities…)
Undetermined < 1 year Hemivertebra (Abnormal formation of vertebrae…)
Polygenic < 2 years Hip Dysplasia (Abnormal formation of the hip socket, lameness)
Undetermined < 8 months Hypertrophic Osteodystrophy (Mild to severe lameness…)
Undetermined > 1 year Intervertebral Disc Disease (IDD) (Dorsal rupture of discs…)
Undetermined < 1 year Lumbosacral Malarticulation (Rear-leg gait abnormalities…)
Undetermined Birth Lumborsacral Stenosis (Spinal Stenosis) (Lameness etc.)
Undetermined < 1 year Luxation of the Atlantoxial Joint (Separation of spinal column)
Undetermined < 10 years Luxation of the Tarsal, Metatarsal, & Intertarsal Joints (A separation of the various bones making up the hock joint)
Undetermined < 5 months Missing Teeth (Often imperfect dentition)
Undetermined < 18 months Multiple Cartilaginous Exostoses (Lameness & bony nodules may
occur; most often this disease is silent)

Osteochondritis (Dissecans (OCD) (Lameness) 4 types follow:

Polygenic < 1 year FCP – OCD
Undetermined < 1 year Nonfusion of the Anconeus
Undetermined < 1 year Shoulder Joint
Undetermined < 1 year Stifle Joint
Undetermined < 1 year Overshot (Upper jaw extends beyond the lower jaw)
Undetermined < 18 months Panosteitis (Usually, sudden onset of a mild shifting lameness – disease is self-limiting)
Recessive < 1 year Premature Closure of the Ulna (Wrists turn in, front feet turn out)
Undetermined < 1 year Premature Closure of the Radius (Bowed front legs)
Undetermined Birth Spinal Bifida (Rear-limb weakness, etc.)
Polygenic > 1 year Spondylosis Deformans (Abnormal fusion or bridging bet. vertebrae)
Polygenic Varies Transitional Vertebral Segments (Paralysis, atrophy, etc.)
Polygenic < 1 year Undershot (Lower jaw extends beyond upper jaw)
Polygenic < 1 year Wobbler Syndrome (Abnormality of neck vertebrae – may result in
paralysis)

UR: Urinary System Diseases
German Shepherd Dogs are predisposed to 7 of the 22 diseases listed.

X/Recessive < 1 year Cystinuria (Renal Tubular Transport Defect) (May cause stones)
Dominant < 11 years Hereditary Renal Cystadenocarcinomas & Nodular Dermatofibrosis
(Malignant tumors in the kidney with nodules in the skin)
Undetermined Birth Hypospadias (Urinary incontinence & secondary bacterial infections)
Undetermined < 1 year Renal Dysplasia (Renal failure and death)
Undetermined < 6 years Systemic Reactive Amyloidosis (Uremia & chronic renal failure)
Recessive < 3 months Uric Acid Excretion (Usually silent disease except for stone formation)
Undetermined < 9 years Uroliths – Struvite (Collection of calculi – kidney or bladder stones)

Genetic Principles

Knowing the mode of inheritance of a trait is essential to the control of genetic diseases.

Important points about recessive traits: If 1% of the population (in this case GSD) is affected with a genetic disease, 18% of the population consists of carriers, and we have a major problem on our hands.

There are four modes of inheritance in dogs that cause most of the defects we see in this species:

Autosomal recessive (or simple recessive)

Carriers of recessive traits cannot be detected except by the production of affected offspring.

Autosomal dominant

A parent must "show the trait" in order for it to be expressed in offspring.

Sex-linked recessive

Polygenic

More than one gene is involved (environment clearly plays a role with these traits).

Heredity sets limits while environment decides the exact position within these limits. (The environment cannot cause genetic traits, but you may be able to modify or alter a dog in a way that causes a disorder to mimic an inherited trait.)

DEFINITIONS

Alleles: Any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variations.

Dominant: The one of a pair of alternative alleles that masks the effect of the other when both are present in the same cell or organism.

Inc-D: Incomplete dominance.

Genotype: The sum total of genes transmitted from parents to offspring.

Phenotype: What you can "see" or measure in a dog.

Recessive: The one of a pair of alternative alleles that masks the effect of the other when both are present in the same cell or organism.

Undetermined: They just don’t know the Mode of Inheritance yet.

X: Sex-linked.

< = Under a given age.

> = Over a given age.

< Less than or equal to.

> More than or equal to.

Summary

My hope is that you will be able to refer to this list if and when your dog has a problem. It may help pinpoint a disease process for you and your vet.

My primary purpose in preparing this paper was to give the people planning to attend the Genetics Seminar at the National Specialty an overview of the disease processes affecting our White Shepherds. My thoughts about publishing this list of diseases in the Times were to give all AWSA members the benefit of Dr. Padgett’s work. I wasn’t at all surprised at the number of skeletal diseases our dogs are subject to (25), but I was very surprised at the number of Ocular (eyes) diseases affecting our dogs (23).

Clearly the descriptions are brief – possibly too brief in some cases to do more than identify a particular disease process in a particular diagnostic system, but at least it gives you a starting point if you want to do further research. Again, I highly recommend Dr. Padgett’s book, The Control of Canine Genetic Disease.

My apologies in advance for any errors you may discover. This was time-consuming and detailed work to extract just the material on German Shepherds – anyone that buys the book will see what I mean. Couple the detail (which is not my strong suit anyway) with Kyra bumping my elbow or trying to get on my lap. Then add the little Sheltie, Callie, actually jumping on my lap and Zeus (the Malamute) either wanting to come up to the loft or go back outside. And, let’s not forget Abby, the little Golden mix watchdog, who sets off an explosion of activity and barking at the least little interruption, and you will marvel that I can get anything done!

This list will be posted on the AWSA site with other Health and Genetics Articles and any changes to the list because of errors, additions, or deletions will be updated there. The date this version was completed is August 11, 1999.

 

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