Metachromatic Leukodystrophy

Treatment

At Mayo Clinic, physicians experienced with metachromatic leukodystrophy (MLD) from several specialties work together as a team, with the patient and family, to coordinate the best possible treatment plan. It is not unusual for a patient at Mayo Clinic to see seven to 10 physicians as well as therapy and nutrition professionals in a few consecutive days. Mayo Clinic's electronic medical record is accessed by all physicians involved in the care of the patient, ensuring that all the needed information is readily available.

Bone Marrow Transplantation

Bone marrow transplant may be an option to help slow or halt the progression of MLD. However, it has only shown benefit in patients in the early course of the disease.

Supportive Medical Care

A number of medical treatments for patients with MLD are directed at supporting and comforting the patient. Advancements in medical care have allowed patients with MLD to live longer and have a better quality of life. They include:

Medication

To reduce the patient's symptoms and relieve pain, a number of prescription medications may be prescribed, such as:

• Muscle relaxants
• Seizure medications
• Psychiatric medications
• Pain medications

Surgery

Over time, muscle contractures can lead to deformities, which are a source of pain and cause the patient to lose function in the affected body part. Orthopedic surgeons, specialists in bone surgery, can perform surgery to relieve the contractures.

Physical, Occupational, Speech and Recreational Therapy

As MLD progresses, the patient may receive physical therapy to stimulate the muscles and joints, such as physically moving the affected body parts or using hot baths (hydrotherapy).

The purpose of physical therapy is to help keep joints flexible and maintain as much ability to move (range of motion) as possible. This can help to delay joint stiffness, or contractures, and reduce or delay the loss of function or pain that can result from contractures.

Other rehabilitative therapies that may benefit patients with MLD, and improve their quality of life, are occupational, speech and recreational therapy.

Assistive Devices and Nutrition

As the MLD progresses, it interferes with the patient's ability to swallow food or liquid. Maintaining good nutrition is a key element of the patient's care. The patient's caregivers may be referred to a dietitian to discuss ways to sustain nourishment for the patient. At some point, assistive feeding devices will likely be needed. Options include:

• Nasogastric (NG) tube — This is a tube inserted through the nose to the stomach.
• Percutaneous Esophago-Gastrostomy (PEG) tube — PEG tubes are placed through the abdomen into the stomach through a surgical procedure commonly done by a physician specializing in gastroenterology or radiology. This option is more permanent than the NG tube.

Gallbladder Monitoring and Treatment for Gallstones

One common symptom of patients who have MLD is gallstones, resulting from sulfatides accumulating in the wall of the gallbladder. It is important to monitor for this condition, particularly in patients who can no longer verbalize about the abdominal pain related to gallstones.

Eye Checkups

As the disease progresses into advanced stages, patients will often lose some vision. Patients should receive regular eye checkups with an ophthalmologist.

Support for the Family

Family members of patients with MLD need help in coping with the disease and the challenges it represents. Mayo Clinic offers various resources, education and information and will also help connect family members to local support groups.

Coordination with Primary Care Physician

Mayo Clinic provides treatment and follow-up care for patients with MLD, and coordinates with the patient's primary care or local physician.