Globoid Cell Leukodystrophy in Dogs

Globoid cell leukodystrophy is also known as galactocerebrosidosis, Krabbe disease, galactosylceramide lipidosis, or galactocerebrosidase deficiency. The damage to the nerve fibers means the insulation is unable to contain the nerve impulses so they are sent in the wrong directions and do not get to the place they need to go.

Eventually, a there is a complete breakdown of neurological function so the brain cannot communicate with the rest of the body. This is similar to wires without insulation which lets the electrical current go wherever it wants, causing a short circuit and breakdown. While some dogs are able to live for over a year with this disorder, the majority have such a poor quality of life by the age of six months that they are euthanized to spare them the pain.

Globoid cell leukodystrophy is a genetic lysosomal storage disorder that causes neurological damage and is almost always fatal within the first year of life. It is caused by an autosomal deficiency and the symptoms start at around four weeks of age, but in some cases, do not show up until age six to eight months. The main symptoms of this disease include blindness, deafness, and loss of motor function.

There is a nervous system enzyme (galactocerebrosidase) deficiency that blocks the myelin production and destroys any myelin cells that were already created. This leads to the degeneration of white matter of the nervous system that is needed to insulate the brain cells and nerve fibers. Unfortunately, there is no cure for globoid cell leukodystrophy and the end result is death, usually by euthanasia to end the dog’s suffering.

Dogs with globoid cell leukodystrophy have various symptoms concerning the central nervous system and peri, but the most common include:

• Slow weight gain
• Progressive peripheral neuropathy
• Loss of control of muscle movement
• Wide stance
• Incoordination
• Tremors of the tail
• Weakness of the legs
• Leg crossing
• Still limbs
• Irritability
• Tremors
• Seizures
• Blindness
• Deafness
• Complete loss of motor control
• Death

Types

Globoid cell leukodystrophy is also known by other names such as:

• Krabbe disease
• GALC deficiency
• Galactocerebrosidase deficiency
• Galactosylceramide beta-galactosidase deficiency
• Globoid cell leukoencephalopathy

Globoid cell leukodystrophy is caused by an inherited deficiency of the nervous system enzyme galactocerebrosidase. The most commonly affected breeds include:

• Cairn Terriers
• West Highland White Terriers
• Miniature Poodles
• Dalmatians
• Irish Setters
• Basset Hounds
• Bluetick Coonhounds
• Australian Kelpies
• Young dogs from one to six months of age

A clinical evaluation will be done which includes a complete examination of your dog’s body from head to tail. Your dog’s vital signs and health history will be recorded as well as his immunization records, if you have them. An MRI may show pronounced abnormalities in the T-2 images and a large accumulation of psychosine in the white matter and brain.

The deficiency of the galactocerebrosidase (GALC) enzyme is determined by an assay test of the white blood cells. However, the most definitive diagnostic test to date is a DNA test, which can tell if your dog is a carrier or is suffering from the disease. Other tests that the veterinarian may use are electromyography, F-wave analysis, and peripheral nerve conduction rate.

Unfortunately, there is no cure for globoid cell leukodystrophy, but there are some treatments that can help make your dog more comfortable so he can have a better quality of life in the time he has left. Some of the most effective treatments include physical therapy and medications, and there are new experimental treatments that may be of interest to some such as bone marrow transplantation or cord blood transplants.

Physical Therapy

Physical therapy can help if started early. However, there is a limit to what can be done when the nerve impulses are misfiring. Aqua therapy and massage may be helpful as well.

Medications

Some of the medications that have been used are corticosteroids and NSAIDS for pain and inflammation and stronger pain relievers as needed.

Bone Marrow Transplant

Although bone marrow transplants have been successful in many cases, it is usually only effective if treatment is started before symptoms have started.

Cord Blood Transplant

The most promising treatment to date is stem cell therapy to provide the body with healthy cells containing GALC to help in the remyelinating process.

Even with treatment, the prognosis for dogs with globoid cell leukodystrophy is grave. There is no cure and death is the outcome in 99.9% of cases. The only way to prevent the disease is for breeders to screen dogs before breeding them and encourage other breeders to do the same. In addition, make sure you ask the breeder for a certified copy of the DNA test before you buy your puppy.