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Affiliated with MassGeneral Hospital for Children, the Partners Pediatric Multiple Sclerosis Center and the Neuromuscular Disorders Unit 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.
The Leukodystrophy Clinic takes a multidisciplinary approach to the diagnosis and treatment of leukodystrophies. This means that we coordinate services and referrals to other specialists according to our patient’s symptoms and needs, improving our patient’s experience of getting services for diagnosis and treatment. Further, leukodystrophy specialists regularly consult with these other providers to get a full understanding of our patient’s challenges and concerns.
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.
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.
We have an active laboratory devoted to leukodystrophy research at the Mass General Hospital Neuroscience Center in Charlestown Navy Yard, Research Building 149. We actively collaborate with the Martinos Center for Biomedical Imaging, also located on the Charlestown Navy Yard Campus.
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.
Visit the Partners Clinical Trials website to see all of the clinical trials and research studies at Partners' hospitals, or to register with RSVP for Health to be notified by e-mail about studies of interest to you or your family. Call our research coordinator at 617-643-3799 if you have questions about our studies.
The Leukodystrophy Service at Massachusetts General Hospital is New England’s resource for leukodystrophy patients. Neurologists specializing in leukodystrophies and related disorders provide diagnostic services, referrals and care to individuals with symptoms such as developmental delay, progressive weakness and spasticity, and gait difficulties.
Specialists in the Leukodystrophy Clinic offer comprehensive patient evaluations and have access to a full range of therapies for adults and children.
The diseases we treat include adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD), Krabbe's disease, Canavan disease, Alexander's disease, childhood ataxia with cerebral hypomyelination (vanishing white matter disease), and other undiagnosed white matter disorders.
New patients who do not have a Leukodystrophy diagnosis will need to have their doctor mail any medical notes or MRIs to us before making an appointment. If new patients do have a Leukodystrophy diagnosis or family history, they may mail the information or bring it to the first appointment.
All patients need a referral before making an appointment. Doctors can download our referral form and fax it to 617-726-2019. To request an appointment at the weekly Leukodystrophy Clinic please call 617-726-3642.
When you phone for an appointment the Leukodystrophy clinic coordinator will ask you for general and medical history information. The physician will review all your information at the time of your first visit. When you arrive for your first appointment please check in at the front desk. Your first appointment usually lasts 90 minutes. At the end of your appointment, you will be able to schedule a follow-up appointment if you choose. Follow-up appointments usually last 45 minutes.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.
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 Mass General Hospital 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 National Tay-Sachs and Allied Diseases Foundation, the German Leukonet and the MLD Foundation.
The Massachusetts General Hospital for Children offers a coordinated care clinic, palliative care clinic and more.
We coordinate referrals to urology, neuropsychology, orthopedics, pulmonary, nutritional and rehabilitation services. Our clinic coordinator makes contact with the appropriate specialists.
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 Massachusetts General Hospital Neurogenetics DNA Diagnostic Laboratory to provide genetic testing for some inherited forms of leukodystrophies.
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