BRAQUIGNATIA ( PICO DE LORO )

Lethal White Symdrom ( Foals ) ( Sindrome blanco mortal )

Miopata por almacenamiento de polisacridos
Congenital Problems of the Autoimmune System
Severe Combined Immunodeficiency (SCID) is a fatal disease of Arabian
and part-Arabian foals. It is caused by a genetic defect transmitted as an
autosomal recessive trait. Affected foals that attain colostral antibody
transfer are clinically normal until the colostral antibodies decrease. No
functional B and T lymphocytes are produced which leads to a complete
lack of antibody production and defective cell-mediated immunity.
Affected foals are lymphopenic (less than 1,000 lymphocytes per mm3),
develop infections and die by 4.5 months of age (2,3,4).
Neonatal Isoerythrolysis is not truly an inherited disease. However,
absorption of colostral (maternal) antibodies result in the destruction of
the red blood cells in the newborn foal. For it to occur, the dam's blood
group must be negative for certain blood types, e.g., Aa- or Qa-. Also,
the mare must become sensitized to the offending antigen (Aa or Qa) by
exposure through previous pregnancies, blood transfusion or
transplacental contamination and the foal must inherit from the sire the
antigens (Aa or Qa) to which the mare has been sensitized. Foals
become sick after nursing. Jaundice (icterus) is preceded by lethargy
(drowsiness) and weakness, and the presence of haemoglobin in the
plasma and urine (haemoglobinemia, haemoglobinuria) rapidly follows. A
severe anaemia (low red blood cell count) ensues. Prompt recognition
and therapy contribute to a good outcome; however, the prognosis in
advanced cases is poor. Mares can be screened before parturition (birth
of the foal) for alloantibodies against a panel of known erythrocyte
alloantigens (5).
Congenital Defects of the Eyes and Ears
Colobomas are defects and, especially, a fissure of any part of the eye.
Absence of the nasal punctum. Tears flow across the eye and drain from
the puncti, which are located at the medial canthus (near the nose) of
the eye, into the nostrils. Blockages or absence of any part of this
drainage system results in overflowing of tears from the lower eyelid(s).

Entropion is the inversion (turning inward) of the margin of the eyelid. It

results in chronic irritation of the cornea from the eye lashes turning
inward.

Congenital cataracts

Congenital Heart Defects

o Various holes or defects between the atria or ventricles occur as a
result of improper fetal development. Other defects are due to
failure of various parts of the fetal circulation to close after birth.
These include patent ductus arteriosus, patent foramen ovale, or

persistent fetal circulation. Persistent right aortic atrial arch is a

failure of regression in the embryo, resulting in a ring structure
that can occlude the esophagus and creating megaesophagus
(dilation of the esophagus).
Congenital Defects of the Gastrointestinal (GI) System include:
o atresia or blockages of various areas along the intestinal tract.
This condition is uncommon in foals and it is not related to the
Lethal White Disease. The segment of intestines most often
involved is the colon (atresia coli), although it has also been
described in the rectum (atresia recti), anus (atresia ani), ileal and
jejunal segments. The affected animals develop signs of colic
during the first 24 hours of life. Depending on the location of the
atresia, scant mucous (lighter than meconium) may be present in
the rectum.
o Lethal white disease is seen in horse breeds that have white
spotting and has been recognized in the following breeds: the
Paint horse, Pinto horse, Quarter horse, Miniature horse and
Thoroughbred. Horses often nurse vigorously at birth and are fine
until their GI tract proximal to the lesion fills up, then they get
colicky and look "bloated". At that point, they don't nurse any
more. The cause of the intestinal obstruction is a lack of nerve
cells in the distal portion of the large intestine (aganglionic
megacolon). This is thought to be due to a fault in the proliferation
and/or migration of nerve stem cells from the neural crest of the
developing embryo. The disease is similar to the human
Hirschsprung Disease. It is caused by a mutant allele.
Homozygosity for the Overo allele (both alleles are OO) results in
white or nearly white foals. Heterozygous animals (Oo) can be
tested for the presence of this allele and therefore prevent
heterozygous carriers being mated. Lethal white foal syndrome is
recessive (i.e. the only horses to show this disorder are
homozygotes for the Overo allele).
o

Brachygnathia refers to a malocclusion between the mandible and

the maxilla. Mandibular brachygnathia is most common and refers
to an abnormal shortening of the mandible which results in an
overshot upper jaw or parrot mouth.

Cleft palate is a longitudinal opening in the hard palate which

separates the mouth from the nasal pharynx. Signs are usually
evident at birth or shortly after nursing when milk drains from the
nostrils. An incident level of 0.1 to 0.2 % is reported. A physical
exam must be done in a neonate with this sign. Aspiration
pneumonia is a common sequel. Surgical therapy is the only
option but it may not be recommended.

Congenital Disorders of the Musculoskeletal System

o Flexural, Contractural and Angular limb deformities include flexor
laxity (flexor ligaments are too loose), flexural deformities of the

fetlock and coffin (club foot where the superficial digital flexor
tendon is too tight), varus (e.g., bowlegged) and valgus (e.g.,
knock-kneed), affecting mostly the carpus (knee), fetlock and
tibio-tarsal (hock) regions. These problems are often self-limiting
and often resolve with adequate treatment and support.
Patellar luxation. There is a congenital form of this condition which
has been described, most commonly in miniature horses and
Shetland ponies. The luxation occurs laterally (the patellar can be
displaced or moves to the outside of the knee) because of
hypoplasia of the femoral trochlea and shallowing of the
intertrochlear groove. In newborns, it becomes apparent when the
foal tries to stand but fails to extend the stifles, so the foal
acquires a crouching position. Femoral nerve paralysis may also
produce this sign.

Skeletal malformations include wry nose (twisted nose), torticollis

(twisted neck), scoliosis (lateral deviation of the back), lordosis
(ventral dorsal deviation of the back).

Incomplete closures of the bony spinal canal (cervical

meningomyelocele, spina bifida)

Hydrocephalus (abnormal accumulation of fluid in the cranial vault

with resultant enlargement of the head)

Digital malformations - supernumerary (polydactyly) digits,

hypoplasia of phalanges, e.g., navicular

Malignant hyperthermia syndrome (hyperthermia of anaesthesia)

is a progressive increase in body temperature, muscle rigidity and
metabolic acidosis, leading to rapid death, seen when an
anaesthetic is administered.

Hernias (are defects in the muscle wall which permit

intestines/organs to move into an abnormal location)

Diaphragmatic hernia is a congenital opening in the

thoracic diaphragm, permitting the displacement of
abdominal organs into the thorax.

Umbilical hernia is the incomplete closure of the abdominal

wall at the umbilicus.
Inguinal hernias are commonly seen in certain breeds,
particularly Standardbred and draft horses. Usually they
happen in male foals and a large scrotal sac will be seen.
They will rarely present colic signs. It is recommended to
reduce the hernia on a daily basis and wait for 4-6 months
as most of them will resolve. In cases presented with colic
or when edema appears in the inguinal/ventral area
(ruptured hernia), it is advisable to surgically repair it.

Dwarfism refers to the failure of appropriate growth resulting in a

smaller horse. A dwarf horse can be proportionate or
disproportionate. Proportionate dwarfs are a result of a deficiency
in growth hormone while disproportionate dwarfs result from
abnormal thyroid hormone levels. The latter results in a foal with
musculoskeletal immaturity, characterized by delayed cuboidal
bone development, a large head, silky hair coat, floppy ears and
mandibular brachygnathia. Determination and interpretation of
either growth hormone assays or thyroid hormone function is not
entirely developed or understood in the equine, hence the
importance of clinical diagnosis. Efforts towards characterizing
thyroid function and growth hormone levels should be undertaken
to prevent overdiagnosing this condition. A nitrate toxicity theory
has been confirmed in certain foals born with "congenital
hypothyroid syndrome".

Tying-up Syndrome (Equine rhabdomyolysis syndrome, Exertional

rhabdomyolysis, Myoglobinuria). Some forms of this disorder are
thought to be inherited as an autosomal recessive trait. However,
the published data is inconclusive on this point (6).

Hyperkalemic periodic paralysis or HYPP is marked by sudden

attacks of paralysis which, in severe cases, may lead to collapse
and sudden death. It is an inherited mis-sense mutation in the
gene encoding the alpha chain of the adult skeletal muscle
sodium channel, resulting in increased sodium permeability across
the skeletal muscle cell membrane. Quarter horse, Paint horse and
Appaloosa progeny tracing back to the Quarter horse sire,
"Impressive", can be affected with this disease and must be
eliminated from any reproductive program.

Respiratory Abnormalities
o Guttural pouch tympany is a distinct soft swelling at the throat
latch area. Palpation of the swelling resembles the palpation of a
balloon. Radiographs revealed a large air-filled cavity. Horses may
also have a respiratory noise, dyspnea (difficult breathing), a
cough, dysphagia (difficult swallowing) and aspiration pneumonia.
o Choanal atresia is a failure to regress of the bucconasal
membrane, producing an airway obstruction at the junction of the
nasal cavity and the pharynx. Bilateral cases usually die unless an
emergency tracheotomy is performed. Unilateral cases may go
undiagnosed; however, asymmetry of airflow can be detected.
Surgical treatment by a transnasal or laryngotomy approach or
through an endoscope has resulted in some success.
Congenital Sex Determination Disorders
o The intersex disorders hermaphrodite and pseudohermaphrodite
occur when an individual has a mixture of male and female
characteristics. It is often due to an abnormality of the sex
chromosomes. The disorders include gonadal hypoplasia (small

testes or ovaries), gonadal dysgenesis. XY female type, Swyer

syndrome, Sry -XX hermaphroditism, and XX male
pseudohermaphroditism.

An example is a horse with stallion-like behaviour with gonads retained in

the abdomen which histologically were testes but, when karyotyped (looking
at the chromosomes), the stallion had the normal 64 chromosomes, two of
which were XX (female) chromosomes. This stallion was a 64 XX male
pseudohermaphrodite.
Congenital Skin or Integument Disorders
o Hereditary junctional mechanobullous is a condition in Belgian
foals where the basement membrane in the hoof separates and
results in sloughing of the hooves by 12 days of age (7).
o Undermined skin or Hyperelastosis cutis (Ehler's-Danlos syndrome
in humans) is seen in Quarter horses and Haflingers. Ehlers-Danlos
syndrome in humans is an autosomal dominant trait with variable
expression.
o

Dilute Lethal or Lavender Foal Syndrome occurs in Egyptian and

part-Egyptian Arabian horses and is usually fatal within 48 hours
of birth. Foals are born with difficulty (dystocia), fail to stand or
nurse and have neurological problems (intermittent joint rigidity
and rapid eye movements). The foals are called lavender'
because the hair coat has a diluted lavender or pink colour. This
may be due to abnormal clumping of the pigmentation in the hair,
but could also be attributed to cyanosis (lacking oxygen) caused
by the long and difficult birth. The foal is often larger than normal.
On postmortem, vacuolations of the neurons are found (8).

Roan coat colour occurs at a low frequency (generally less than

5%) in many horse breeds. Hintz and van Vleck (1979) provided
convincing evidence that roan coat colour in Belgian horses is due
to heterozygosity for an autosomal gene that is lethal when
homozygous (9).

Congenital Diseases of the Urogenital Tract

o Ruptured bladder. The etiology of this condition is believed to be
traumatic and occurs most commonly in male foals during
parturition, although the signs of uroperitoneum (urine in the
abdomen) do not appear until 2-5 days of age. These animals can
be suffering from very severe metabolic disturbances and their
correction previous to surgical repair is of paramount importance.
Therefore, ruptured bladder is not a surgical emergency but a
medical one. Clinical signs involve lethargy, abdominal distention,
decreased appetite and mild colic. Affected foals may urinate
normally although commonly they are seen to strain and make
frequent attempts to urinate. The back is seen ventroflexed
(flexed downwards) as a difference with meconium impaction
where the back is dorsoflexed (flexed upwards). Serum

electrolytes and metabolites will be affected and are characterized

by increased potassium (hyperkalemia), decreased sodium
(hyponatremia), decreased chloride (hypochloremia) and presence
of urea in the blood (azotemia). Diagnosis of uroperitoneum is
based on comparison of levels of creatinine in peritoneal fluid and
serum.
Patent Urachus is where urine is detected leaking from the
umbilicus. This could be a normal finding in foals up to 5 to 7 days
of age. However, failure of the urachus to close could result in
septicemic (blood infection) foals. It is not a surgical emergency
and time and medical treatment should be considered before
engaging in a surgical procedure.

Recto-vaginal, urethro-rectal fistula are characterized by a bypass

of urine into the rectum or feces into the vagina or urethra. These
types of abnormalities are usually a part of a larger picture where
other congenital abnormalities related to the urogenital tract are
present. In addition, in rare occasions, some of these cases may
also present an atretic segment of bowel (section of bowel without
an opening).

Ectopic ureter is unusual in horses. There is no predisposition of

sex or breed. It may go undetected for years or the foal may
present signs of urinary incontinence because the ectopic ureters
usually open distal to the trigone of the bladder. Unilateral or
bilateral cases may occur and some cases may also present with
hydro-ureter (dilated fluid filled ureter) or hydronephrosis (dilated
kidney). Surgery has been successful in some cases.

Uterus unicornis signifies the presence of a single uterine horn

rather than two.

MANUAL DE MERCK : FUENTE

Common Congenital Heart Defects

Although a wide variety of congenital defects may occur in horses, few of these occur often
enough to warrant concern. The defects discussed below are those that occur with the
greatest frequency in horses. However, these defects are still rare.

Ventricular Septal Defects

Ventricular septal defects (openings between the left and right ventricles) vary in both size
and effects on blood circulation. Ventricular septal defects may occur with other
abnormalities of the heart present at birth. They are the most common congenital defects in
horses.
Shunting of blood from the left ventricle into the right ventricle is the most common result
of this defect, due to the higher pressures of the left ventricle. Blood shunted into the right
ventricle is recirculated through the blood vessels in the lungs and left heart chambers,
which causes enlargement of these structures. The right ventricle may enlarge as well.
Significant shunting through the pulmonary arteries can induce narrowing of these vessels,
leading to reduced blood flow or increased blood pressure. As resistance rises, the shunt
may reverse (that is, become a right-to-left shunting of blood).
Signs depend on the severity of the defect and the shunt direction. A small defect usually
causes minimal or no signs, and affected horses may be able to engage in moderate levels
of physical activity. Larger defects may result in severe left-sided congestive heart failure.
The development of a right-to-left shunt is indicated by a bluish tinge, fatigue, and exercise
intolerance. Most affected animals have a loud murmur; however, this murmur is absent or
faint when a very large defect is present or when shunting is right to left. Chest x-rays,
echocardiography (ultrasonography), and other more specialized techniques may be used to
confirm the defect.
Treatment also depends on the severity of signs and direction of the shunt. Horses with
small ventricular septal defects do not typically require treatment and the outlook is good.
Animals with a moderate to severe defect more commonly develop signs, and treatment
should be considered. Horses with a ventricular septal defect should not be bred.
Patent Ductus Arteriosus

The ductus arteriosus is a short, broad vessel in the unborn foal that connects the pulmonary
artery with the aorta. It allows most of the blood to flow directly from the right ventricle to
the aorta. In an unborn foal, oxygenated blood within the main pulmonary artery is forced
into the descending aorta through the ductus arteriosus, bypassing the nonfunctional lungs.
In most species, the ductus closes at birth when the animal begins to breathe, allowing
blood to flow to the lungs. In foals, however, the complete closure of the ductus may be
delayed for up to a week after birth, causing a heart murmur.
If the ductus does not close within the first week, the blood flow is forced from chambers of
the left side of the heart to those of the right side; these defects are called left-to-right
shunts. They result in overcirculation of the lungs and enlargement of the heart chambers,
which may result in arrhythmias. Over time, signs of left-sided congestive heart failure
develop.

Tetralogy of Fallot

Tetralogy of Fallot is a defect that produces a bluish tinge to skin and membranes because
there is not enough oxygen in the blood. It is caused by a combination of pulmonic stenosis
(an obstruction of blood flow from the right ventricle), a ventricular septal defect see Heart
and Blood Vessel Disorders of Horses: Ventricular Septal Defects, thickening of the muscle
fibers of the right ventricle, and varying degrees of the aorta rotating to the right.
The effect of this grouping of defects depends primarily on the severity of the pulmonic
stenosis, the size of the ventricular septal defect, and the amount of resistance to blood flow
provided by the blood vessels. Consequences may include reduced blood flow to the lungs
(resulting in fatigue and shortness of breath) and generalized lack of oxygen in the blood
causing a bluish tinge to skin and membranes. Red blood cells may be abnormally
increased, leading to the development of blood clots and poor circulation of blood.
Electrocardiographs, x-rays, and echocardiography (ultrasonography) can help confirm the
diagnosis. Treatment options include surgery and medical management, but the outlook is
guarded to poor.
Tricuspid Dysplasia (Atresia)

Tricuspid dysplasia refers to abnormal development or malformation of the tricuspid valve

of the heart, allowing regurgitation of blood back into the right atrium. This defect is seen
occasionally in horses at birth. Arabian horses are more likely to have tricuspid dysplasia,
suggesting that there may be a genetic basis for the defect in some cases.
Longterm tricuspid regurgitation leads to volume overload of the right heart, enlarging the
right ventricle and atrium. Blood flow to the lungs may be decreased, leading to fatigue and
an increased rate of respiration. As the pressure in the right atrium increases, blood pools in
the veins returning to the heart, causing an accumulation of fluid in the abdomen.
The more severe the defect, the more obvious the signs will be in affected horses. Signs of
right-sided congestive heart failure, such as accumulation of fluid in the abdomen and
lungs, may be seen. A loud heart murmur is very noticeable. Arrhythmias, especially the
sudden onset of a very high heart rate, are common and may cause death. In a severe form,
called tricuspid atresia, the entire valve may be undeveloped or absent.
Electrocardiography and x-rays may show enlargement of the right ventricle and atrium,
while the malformed tricuspid valve can sometimes be seen using echocardiography
(ultrasonography). The outlook for horses with these signs is guarded, although mild
defects may pose few problems.

Arabian Horses
There are six known genetic diseases in Arabian horses, two are inevitably fatal, two are
not always fatal but usually result in euthanasia of the affected animal, the remaining
conditions can be treated. Three are thought to be autosomal recessive conditions, which
means that the flawed gene is not sex-linked and has to come from both parents for an
affected foal to be born. The others currently lack sufficient research data to determine the
precise mode of inheritance.
1. Vitiligo aka Leukoderma or Birdcatcher Spots, Arabian Fading Syndrome, Pinky
Syndrome and Lavender Foal is a fatal, neurologic disease found in Arabian horses
worldwide. Common clinical signs in affected foals include seizures; opisthotonos
(severe hyperextension of the head, neck, and spinal cord); stiff, paddling leg
movements; nystagmus (involuntary movement of the eyeballs); and, often, a soft
lavender color to the foals' coats.
2. Severe Combined Immunodeficiency (SCID) - Similar to the "bubble boy"
condition in humans, an affected foal is born with no immune system, and thus
generally dies of an opportunistic infection, usually before the age of five months.
There is a DNA test that can detect healthy horses who are carriers of the gene
causing SCID, thus testing and careful, planned matings can now eliminate the
possibility of an affected foal ever being born.
3. Cerebellar Abiotrophy (CA or CCA) - An affected foal is usually born without
symptoms, but at some point, usually after six weeks of age, develops severe
incoordination, a head tremor, wide-legged stance and other symptoms related to the
death of the purkinje cells in the cerebellum. Such foals are frequently diagnosed
only after they have crashed into a fence or fallen over backwards, and often are
misdiagnosed as a head injury caused by an accident. Severity varies, with some
foals having fast onset of severe coordination problems, others showing milder
symptoms. Mildly affected horses can live a full lifespan, but most are euthanized
before adulthood because they are so accident-prone as to be dangerous. Though
clinical signs are distinguishable from other neurological conditions, the only way
to verify a diagnosis of CA is to examine the brain after euthanasia. An indirect
prediction analysis that identifies DNA markers associated with CA is available.
4. Lavender Foal Syndrome (LFS) - Also called Coat Color Dilution Lethal (CCDL).
The condition gets it name because most affected foals are born with a coat color
dilution that lightens the tips of the coat hairs, or even the entire hair shaft. Foals
with LFS are unable to stand at birth, often have seizures, and are usually
euthanized within a few days of birth. There is currently no genetic test for LFS.
5. Occipital Atlanto-Axial Malformation (OAAM) - This is a condition where the
cervical vertebrae fuse together in the neck and at the base of the skull. Symptoms
range from mild incoordination to the paralysis of both front and rear legs. Some
affected foals cannot stand to nurse, in others the symptoms may not be seen for
several weeks. This is the only cervical spinal cord disease seen in horses less than 1
month of age, and a radiograph can diagnose the condition. There is no genetic test

for OAAM, and the hereditary component of this condition is not well researched at
present.
6. Equine Juvenile Epilepsy - Sometimes referred to as "benign" epilepsy or
"idiopathic" epilepsy, is not usually fatal. Foals are born normal and appear normal
between epileptic seizures, usually outgrowing the condition between 12 and 18
months. Affected foals may show signs of epilepsy anywhere from two days to six
months from birth. Symptoms of the condition can be treated with traditional antiseizure medications, which may reduce the severity of symptoms. Though the
condition has been studied since 1985 at the University of California, Davis, the
genetic mode of inheritance is unclear, though the cases studied were all of one
general bloodline group. Some researchers have suggested that epilepsy may be
linked in some fashion to Lavender Foal Syndrome due to the fact that it occurs in
similar bloodlines and some horses have produced foals with both conditions.
7. Guttural Pouch Tympany (GPT) - Occurs in horses ranging from birth to 1 year of
age and is more common in fillies than in colts. It is thought to be genetic in
Arabians, possibly polygenic in inheritance, but more study is needed. Foals are
born with a defect that causes the pharyngeal opening of the Eustachian tube to act
like a one-way valve. Air can get in, but it cannot get out. The affected guttural
pouch is distended with air and forms a characteristic nonpainful swelling.
Breathing is noisy in severely affected animals. Diagnosis is based on clinical signs
and radiographic examination of the skull. Medical management with NSAID and
antimicrobial therapy can treat upper respiratory tract inflammation. Surgical
intervention is needed to correct the malformation of the guttural pouch opening to
provides a route for air in the abnormal guttural pouch to pass to the normal side
and be expelled into the pharynx. Foals that are successfully treated may grow up to
have fully useful lives.
Quarter Horses
1. Hyperkalemic periodic paralysis (HYPP), which is caused by an autosomal
dominant gene linked to the stallion, Impressive. It is characterized by
uncontrollable muscle twitching and substantial muscle weakness or paralysis
among affected horses. Because it is a dominant gene, only one parent has to have
the gene for it to be transmitted to offspring. There is a DNA test for HYPP, which
is required by the AQHA. Since 2007, the AQHA bars registration of horses who
possess the homozygous form (H/H) of the gene, and though heterozygous (H/N)
horses, is still eligible for registration, altering that status is currently being
discussed. Additionally all Quarter Horses born 2007 or later that are confirmed to
be descendants of Impressive must carry a note about the risks of HYPP on their
registration papers. Due to HYPP, the halter classes are undergoing significant
changes. Halter classes are dominated by the Impressive bloodline. Impressive, a
very prolific halter horse, brought to the stock breeds the muscle mass that is
popular in halter competition today. This muscle mass is linked to HYPP, and as the
condition is reduced within the breed, the style of horse in halter classes is also
likely to change. Already there have been rule changes, including the creation of a

"Performance Halter class" in which a horse must possess a Register of Merit in

performance before it can compete.
2. Hereditary Equine Regional Dermal Asthenia (HERDA), also known as
hyperelastosis cutis (HC). This is caused by an autosomal recessive gene, and thus,
unlike HYPP, HERDA can only be transmitted if both parents carry the gene. When
a horse has this disease, there is a collagen defect that results in the layers of skin
not being held firmly together. Thus, when the horse is ridden under saddle or
suffers trauma to the skin, the outer layer often splits or separates from the deeper
layer, or it can tear off completely. It rarely heals without disfiguring scars. Sunburn
can also be a concern. In dramatic cases, the skin can split along the back and even
roll down the sides, with the horse literally being skinned alive. Most horses with
HERDA are euthanized for humane reasons between the age of two and four years.
The very hotly debated and controversial theory, put forth by researchers at Cornell
University and Mississippi State University is that the sire line of the great
foundation stallion Poco Bueno is implicated as the origin of the disease. As of May
9, 2007, Researchers working independently at Cornell University and at the
University of California, Davis announced that a DNA test for HERDA has been
developed. Over 1,500 horses were tested during the development phase of the test,
which is now available to the general public through both institutions.
3. Glycogen Branching Enzyme Deficiency (GBED) is a genetic disease where the
horse is lacking an enzyme necessary for storing glycogen, the horse's heart muscle
and skeletal muscles cannot function, leading to rapid death. The disease occurs in
foals who are homozygous for the lethal GBED allele, meaning both parents carry
one copy of the gene. The stallion King P-234 has been linked to this disease. There
is a DNA blood test for this gene.
4. Equine polysaccharide storage myopathy, also called EPSM or PSSM, is a
metabolic muscular condition in horses that causes tying up, and is also related to a
glycogen storage disorder. While also seen in some draft horse breeds, PSSM has
been traced to three specific but undisclosed bloodlines in Quarter Horses, with an
autosomal recessive inheritance pattern. 48% of Quarter Horses with symptoms of
neuromuscular disease have PSSM. To some extent it can be diet controlled with
specialized low-starch diets, but genetic testing is advised before breeding, as the
condition exists at a subclinical level in approximately 6% of the general Quarter
Horse population.
5. Lethal White Syndrome. Although "cropout" Quarter Horses with Paint markings
were not allowed to be registered for many years, the gene for such markings is a
recessive and continued to periodically appear in Quarter Horse foals. Thus, it is
believed that some Quarter Horses may carry the gene for Lethal White Syndrome.
There is a DNA test for this condition.