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Congenital and Inherited Disorders of the Nervous System in Horses

By William B. Thomas, DVM, MS, DACVIM (Neurology), Professor, Neurology and Neurosurgery, Department of Small Animal Clinical Sciences, University of Tennessee ; Daniela Bedenice, DVM, DACVIM, DACVECC, Assistant Professor, Cummings School of Veterinary Medicine, Tufts University ; Kyle G. Braund, BVSc, MVSc, PhD, FRCVS, DACVIM (Neurology), Director, Veterinary Neurological Consulting Services ; Cheryl L. Chrisman, DVM, MS, EDS, DACVIM (Neurology), Professor of Veterinary Neurology, College of Veterinary Medicine, University of Florida ; Caroline N. Hahn, DVM, MSc, PhD, DECEIM, DECVN, MRCVS, Senior Lecturer in Veterinary Clinical Neuroscience, Royal (Dick) School of Veterinary Studies, University of Edinburgh ; Charles M. Hendrix, DVM, PhD, Professor, Department of Pathobiology, College of Veterinary Medicine, Auburn University ; Maureen T. Long, DVM, PhD, DACVIM, Associate Professor, Department of Infectious Diseases and Pathology, College of Veterinary Medicine, University of Florida ; Robert J. MacKay, BVSc, PhD, Professor, Large Animal Medicine, Department of Large Animal Clinical Sciences, College of Veterinary Medicine, University of Florida ; Karen R. Munana, DVM, MS, DACVIM (Neurology), Associate Professor, Department of Clinical Sciences, College of Veterinary Medicine,North Carolina State University ; Charles E. Rupprecht, VMD, MS, PhD, Director, LYSSA LLC ; Josie L. Traub-Dargatz, DVM, MS, DACVIM, Professor of Equine Medicine, Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University ; Susan L. White, DVM, MS, DACVIM, Professor of Large Animal Internal Medicine, Department of Large Animal Medicine, College of Veterinary Medicine, University of Georgia

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Some congenital defects (defects present at birth), are inherited from the parents, while others are caused by environmental factors in the womb (such as nutritional deficiencies or some viral infections). For many, the cause is unknown. Foals are born with a well-developed nervous system, and disorders may be recognizable soon after birth.

Birth defects of the nervous system are categorized according to the primary region of the nervous system affected: forebrain, cerebellum, spinal cord, peripheral nerve and muscle disorders, or multifocal disorders that include signs of more than one area. Many of these inherited disorders are rare or breed-specific, or both. A few of the more common disorders of each area are described below.

Forebrain Disorders

Juvenile epilepsy (also called idiopathic or familial epilepsy) occurs in young foals, particularly Arabians, up to 12 months of age. The foal can have seizures that result in head injuries or blindness. Foals may recover without treatment, but anticonvulsant medication is usually recommended for the first 1 to 3 months.

Narcolepsy occurs in several equine breeds, particularly Shetland ponies. Signs include excessive sleepiness or sudden attacks of paralysis during which the animal is limp and paralyzed but conscious. The animal is otherwise healthy. During narcoleptic episodes, rapid eye movements occur, and at the same time, the animal may also have muscle weakness or collapse.

Cerebellar Disorders

Cerebellar disorders (defects in the cerebellum) usually result in a tremor and a lack of coordination in both the head and legs.

Cerebellar hypoplasia is a condition in which the cerebellum does not develop completely. The horse typically has a tremor that does not worsen as the animal matures. Hydrocephalus can also be found in animals with cerebellar disorder.

Cerebellar abiotrophies develop when cells in the cerebellum age prematurely and degenerate. In Arabian foals and Swedish Gotland ponies, the onset of signs is from birth to 9 months. Signs are similar to those seen in severe cerebellar injury, including tremor and poor motor control. The signs get progressively worse over time.

Spinal Cord Disorders

Neuraxonal dystrophy is inherited in Morgan horses, and signs usually develop around 6 to 12 months of age. It occurs occasionally in the German horse breed Hafflinger. The legs become weak and movement can appear stiff, awkward, or uncoordinated. It is now thought that neuraxonal dystrophy in horses is the same as equine degenerative myeloencephalopathy (see below).

Equine degenerative myeloencephalopathy has been mainly associated with vitamin E deficiency, but it may be inherited in the Appaloosa and other breeds. The connections between the spine and the cerebellum degenerate, and results in a slowly progressive loss of coordination or paralysis of all 4 legs that starts as early as 1 week to 1 month after birth.

Cervical stenotic myelopathy (wobbler syndrome) may have some genetic basis in young, rapidly growing horses, particularly Thoroughbreds. Males are affected more commonly than females. Excessive weight is an important contributory factor, and the signs may be reversed in animals less than 9 months of age if the diagnosis is made early. Signs are caused by injuries to the vertebrae in the neck and usually appear between 6 months and 3 years of age. Diagnosis involves x-rays or other spinal examinations to look for deformity of the neck vertebrae. Treatment usually involves surgery to decompress these areas. The outlook for recovery is uncertain.

Occipitoatlantoaxial malformation is inherited in Arabian foals and may also be seen in foals of miniature horses. Signs include a progressive loss of coordination, partial paralysis of all 4 legs, and standing with an extended neck. Affected foals usually are partially paralyzed at birth, although other neurologic signs may not develop for several years. Diagnosis requires x-rays.

Spina bifida is seen in most species and usually results in dysfunction of the tail and anus, incontinence, and sometimes hind leg weakness.

Peripheral Nerve and Muscle Disorders

Hyperkalemic periodic paralysis is an inherited disorder of Quarter Horses or Quarter Horse-derived breeds. Signs usually appear between the ages of 2 to 3 years and include episodes of muscle tremor and sometimes recumbency, both of which may be brought on by exercise. Blood potassium levels are increased during these episodes. Diagnosis involves testing for the causative gene and is supported by results of needle electromyography. Exercise, nutritional management, and drug treatment can lessen the severity and frequency of episodes, but it does not cure the disease.

Myotonia congenita is an inherited disorder that causes muscle rigidity, marked dimpling when tapping the muscle belly, and a stiff, stilted gait. Diagnosis is via an electromyogram.