Our Clinic
Affiliated with MassGeneral Hospital for Children, the Pediatric Multiple Sclerosis Center and the Neuromuscular Clinic at Massachusetts General Hospital, the Leukodystrophy Clinic is uniquely positioned to provide continuous care for patients from childhood through adulthood. Patients receive information, care and support starting with diagnosis, to daily management of symptoms, through disease progression and advanced stages of disease.
Specialists in the Leukodystrophy Clinic offer comprehensive patient evaluations and have access to a full range of therapies for adults and children.
Diagnostic Services
We coordinate diagnostic services for neurophysiological testing, biochemical testing, genetic counseling, and magnetic resonance imaging (MRI). Magnetic resonance spectroscopy (MRS) – a new, non-invasive technique that allows early detection of biochemical abnormalities in the brain – is also available. In partnership with the Center for Human Genetic Research (CHGR) we are pursuing molecular genetic strategies to identify the underlying DNA sequence variations (genotypes) that modify the disease course in leukodystrophies.
These newer techniques of genetic and MRI research now allow us to describe modifiers of disease progression with greater accuracy, and make it possible to monitor early changes in the nervous system, even prior to the onset of symptoms. Following neurologic evaluation and identification of the specific Leukodystrophy, referrals are made directly from our clinic to the appropriate specialty.
Metabolic and Genetic Diagnostics
For families affected by genetic forms, we can offer a full metabolic and genetic workup. Based on the diagnosis, we can help patients and family understand what to expect. We may be able to help identify other family members who may be at risk.
Referral Coordination
We coordinate referrals to urology, neuropsychology, orthopedics, pulmonary, nutritional and rehabilitation services. Our clinic coordinators Manashi Shanbhag and Donna Crowe establish contact to appropriate specialists.
Typical Evaluation
The physician will begin by reviewing your medical history, family history, current symptoms and treatment. You will be asked about recent changes in your or your child’s abilities. A physical examination will be performed where this will be explored in detail. Once the evaluation is complete, you and the physician can discuss recommendations and pursue the course of diagnostic testing. Depending on your diagnosis treatment options will be discussed.
If other people in your family have been diagnosed with a leukodystrophy, your physician may discuss the genetics of the leukodystrophy. When appropriate, the Leukodystrophy Clinic works closely with the MGH Neurogenetics DNA Diagnostic Laboratory to provide genetic testing for some inherited forms of leukodystrophies.
Appointments
To request an appointment in the Leukodystrophy Clinic please call 617-726-6093. The Leukodystrophy Clinic meets every week on Wednesday afternoons. Appointments begin at 1:00pm and the last appointment is typically scheduled for 4:30pm.
When you phone for an appointment the Leukodystrophy clinic coordinator will ask you for general and medical history information. Please bring hard copies of prior MR imaging with you. The physician will review this information at the time of your first visit. If possible, please have your PCP send medical notes and hard copies or MRIs ahead of time.
When you arrive for your first appointment please check in at the front desk. Your first appointment usually lasts an hour. At the end of your appointment, you will be able to schedule a follow-up appointment if you choose. Follow-up appointments usually last thirty minutes.
Treatments and Therapies
Because these are metabolic disorders, they can involve many parts of the body. Neurologists can identify what part of the nervous system is affected and target treatments that help with the management of the unique problems encountered by leukodystrophy patients. Our physicians can assess motor and cognitive difficulties and treat symptoms such as seizures, headache and muscle spasms. They are aware of current clinical trials and offer guidance and resources for symptom relief. They are closely connected to other departments (orthopedics, physiatry, etc.) and facilitate an interdisciplinary approach. As a team, decisions are made with the patients and their families regarding interventions such as botox injections and baclofen pump insertion. A group of experts in palliative care provides expert advice on pain relief. Endocrinologists consult on adrenal gland replacement. Specialists at the Leukodystrophy Clinic can be an important resource for patients and families in that they can clarify the risks and benefits of experimental therapies such as enzyme replacement or bone marrow transplantation– based on each individual’s situation.
The MGH Leukodystrophy Clinic is uniquely positioned within the academic community of Boston. It interfaces with researchers from HMS, MIT as well as biotechnology companies in the area. Through its worldwide connections it maintains relations with the United Leukodystrophy Foundation, the German Leukonet and the MLD Foundation.
Special Services for Children
The Massachusetts General Hospital for Children offers a coordinated care clinic, palliative care clinic and more.
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