The MDA team

MDA District offices are your headquarters for access to specialized health care at MDA clinics, as well as for local support groups, summer camp, resource referral and more. Staff at your local MDA office can provide information, support and guidance.

In fact, MDA should be your first phone call when you have nonmedical questions about living with a neuromuscular disease. Medical questions should be directed to the MDA clinic team, and MDA staff can provide that contact information if needed.

In most areas, your primary contact at MDA will be the health care service coordinator (HCSC), who can connect you with all appropriate MDA services and provide information about federal, state and local resources that may prove helpful.

The MDA clinic

MDA maintains a network of 200 specialized clinics across the United States and in Puerto Rico. Most MDA clinics are located in teaching hospitals, and many MDA clinic directors are university medical school professors as well as practicing physicians. MDA clinics are at the forefront of research and treatment methods; some clinics also serve as sites for clinical trials of the latest experimental therapies.

Local MDA staff can direct you to the closest MDA clinic, or you can find a local MDA clinic online, or by calling (800) 572-1717.

MDA has 42 MDA/ALS centers across the country. MDA distinguishes some clinics as MDA/ALS centers because of the medical team’s particular expertise with the disease and the research taking place there.

MDA has organized 10 of its elite clinics into networks to support and speed clinical trials of promising research.

Clinics in the Duchenne Muscular Dystrophy Clinical Research Network are:

• Washington University in St. Louis;
• Boston Children’s Hospital;
• Nationwide Children’s Hospital in Columbus, Ohio;
• University of California Davis in Sacramento, Calif.; and
• University of Minnesota in Minneapolis.

Clinics in the ALS Clinical Research Network are:

• California Pacific Medical Center in San Francisco;
• Columbia University in New York;
• Emory University in Atlanta;
• Massachusetts General in Boston; and
• Methodist Hospital in Houston.

The clinic team

MDA clinics utilize a multidisciplinary team approach, meaning individuals can see knowledgeable health care specialists from a variety of disciplines, all at one location.

Specialists can include:

• neurologists
• cardiologists
• physiatrists
• orthopedists
• psychologists
• pulmonologists
• social workers
• physical and occupational therapists
• nurse case managers
• speech/language pathologists
• dieticians
• genetic counselors

The MDA health care service coordinator (HCSC) is a central figure at clinic visits. He or she is usually present on clinic days to answer questions, distribute MDA educational materials, coordinate any MDA services you may require and assist with community resource referrals.

"The MDA clinics have been a very positive part of our lives, and they've really, truly become a part of our family. I really can't imagine what it would be like for our son and for us if there weren't an MDA clinic." — Sean Masters, Arizona, parent of a child affected by spinal-bulbar muscular atrophy

The diagnostic process

The first step in medical care is determining the nature of the disease. The MDA clinic team can perform diagnostic examinations and recommend pertinent laboratory tests.

Some of these tests may be extensive, yet in most instances they can be done on an outpatient basis. Information about genetic-based diagnostic testing is available at the MDA clinic.

Following clinical examination and analysis of the laboratory tests, many neuromuscular diseases can be quickly and accurately identified. Some neuromuscular diseases, however, can be more difficult to diagnose. In these cases, the physician will make what is called a “differential diagnosis,” listing two or more diseases that have similar symptoms.

A definitive diagnosis may require waiting until the disease has progressed to a stage that is unique to that disease.

With the majority of neuromuscular diseases, the first noticeable symptom is usually a persistent weakness in one or more muscles.

Muscles can become weak for many reasons. The first question the physician will seek to answer in trying to establish a diagnosis is whether muscle function is abnormal because there is a disease of muscle itself, or whether muscle function is abnormal because of a disorder that has developed in other tissue (e.g., nerve).

The following section describes the most common diagnostic and laboratory procedures used to determine why muscle function is abnormal and arrive at a definitive diagnosis.

Diagnostic procedures

Neuromuscular diseases can present in a variety of ways and at different ages. Prior to receiving a confirmed diagnosis, you’ll likely undergo an array of testing to ensure that as much information as possible is obtained and other diseases are ruled out. Many treatment options are dependent on obtaining a specific diagnosis.

Among the various types of diagnostic tools your medical team may use are:

Clinical examination
The clinical examination of someone suspected of having a neuromuscular disease focuses on muscle appearance and strength. Muscles are examined with special attention given to those of the arms, legs, shoulders and hips. A few neuromuscular diseases affect facial muscles, and these too are examined.

Determining which muscles are not weak is as important as determining which muscles are weak. Each neuromuscular disease typically shows a specific pattern of muscle involvement. A final diagnosis is based in large part on the pattern of muscle involvement detected during the clinical examination.

Family history
Many neuromuscular diseases are genetic in origin. Knowledge of other affected family members can help to establish and/or confirm a diagnosis. However, it’s possible to have a genetic disease even without a family history of that disease.

Nerve conduction studies and electromyogram
These two tests often are performed at the same evaluation. The nerve conduction studies measure the ability of nerves to conduct impulses to muscle; this is an important test when evaluating for disorders such as Charcot-Marie-Tooth disease.

An electromyogram (EMG) measures electrical activity of muscle. Muscle of someone with a neuromuscular disease may have an electrical activity characteristically different from that of normal muscle.

Serum enzyme tests
Serum enzyme tests measure the amount of muscle proteins present in the blood. When muscle tissue is healthy, these enzymes, particularly creatine kinase (CK), remain in muscle and the amount present in blood is relatively low.

Many, but not all, neuromuscular diseases that cause muscle damage lead to a significant increase in the muscle CK and other enzyme levels found in the blood. Thus, serum enzyme tests can be important aids in the diagnosis of neuromuscular diseases.

The value of these tests is often greatest at the early stages of the disease. At the earliest disease stage, muscle mass is relatively great and changes in serum enzyme levels may occur even before symptoms such as weakness become apparent. In some neuromuscular diseases, muscle enzyme levels fluctuate with disease activity.

At later disease stages, however, muscle mass may be so reduced that serum enzyme levels may even appear normal.

Genetic tests
A small amount of blood can be used to extract DNA from blood cells. This is extremely valuable for diagnosing genetic mutations which can cause specific neuromuscular diseases.

Muscle biopsy
In this procedure, muscle tissue is surgically removed for microscopic and/or biochemical analysis. For some neuromuscular diseases, a final diagnosis depends on the analysis of a muscle biopsy. The amount of muscle removed is roughly equivalent in size to the tip of a little finger. In some conditions, such as the inflammatory myopathies and central core disease, the muscle  tissue has a characteristic appearance under the microscope.

Muscle tissue can be analyzed for abnormalities in a number of proteins within muscle cells.

Managing neuromuscular disease

Upon diagnosis, a number of services may be recommended by the MDA clinic team as measures to medically manage neuromuscular disorders.

Periodic re-evaluations
Follow-up visits are provided at MDA clinics. Ongoing medical management can include therapies and measures for controlling symptoms, and medical interventions to assist individuals in maintaining the highest possible quality of life.

Therapy
An MDA clinic physician may recommend that you consult with a physical, occupational, respiratory and/or speech therapist to assist you in managing symptoms of your neuromuscular disease and to maintain independence.

• Physical therapy: MDA will assist with payment for one consultation annually to (a) evaluate the need for physical therapy and (b) instruct family members and others on how to administer prescribed exercises.

  Physical therapy can keep still-healthy muscles functioning, help you maintain independence and prevent the onset of painful muscle contractures.

• Occupational therapy: MDA will assist with payment for one consultation annually as prescribed. Occupational therapy enables people to make maximum use of their physical capabilities through the use of strategies and techniques, specially designed implements and daily living aids in the home and work environments.

• Respiratory therapy: MDA will assist with payment for one consultation annually for instruction in the use of prescribed respiratory therapy equipment designed to augment or increase vital lung capacity.

• Speech therapy: When prescribed by an MDA clinic physician, MDA will assist with payment for one consultation annually to evaluate the muscles responsible for speech and swallowing. Through such an evaluation, a speech-language pathologist can determine if exercise, use of an augmentative communication device and/or modifications to meals are appropriate.

Social services
Social services are a vital aspect of the MDA clinic program. MDA local offices and clinics may provide additional resources for families seeking to identify alternate sources of payment for medical services and equipment needs.

Social workers also may assist with connecting you to other community resources and providing emotional support for you and your family.

Genetic counseling
Genetic counselors can assist families by:

• obtaining and interpreting a genetic (DNA) or other appropriate test;
• obtaining a diagnosis for a genetic condition;
• determining whether parents of an affected child are carriers of the disorder;
• assessing the risk of passing on the disease to future children;
• determining whether other family members may be at risk; and
• exploring resources for payment of genetic testing.

Flu inoculations
Influenza is particularly hazardous to people whose respiratory muscles have been weakened by neuromuscular disease. Therefore, MDA assists with flu inoculations when when medically recommended.

MDA support services

Support services help those with neuromuscular diseases, their families and caregivers address the challenges that accompany these conditions.

Local MDA offices offer regularly scheduled support group sessions that provide a chance to meet and share with others facing similar challenges.

Support services also are provided online in the Help Through Services section, and through myMuscleTeam, which enables families to keep friends and loved ones updated and assists in coordinating caregiving tasks.

Equipment assistance

Equipment program
MDA assists individuals with obtaining medical equipment through its national equipment program and referrals to community resources.

MDA’s national equipment program is available to anyone affected by the diseases in MDA’s program for whom medical equipment has been recommended through the MDA clinic.

To the extent feasible and when available, MDA provides good-condition refurbished wheelchairs and other durable medical equipment when medically prescribed due to an individual’s neuromuscular disease. This includes wheelchairs, hospital beds, walkers and canes, communication devices and similar items.

Through its local field offices, MDA gratefully accepts donations of medical equipment for distribution through its equipment program. MDA is able to make minor repairs to gently used equipment donated to the Association for this purpose.

Many federal, state and local resources exist to assist individuals with equipment purchases. Local MDA offices maintain an extensive database of  resources available in your area. You can contact your local MDA office at (800) 572-1717 to be connected with knowledgeable staff who will help you navigate the process of obtaining prescribed equipment.

Equipment repairs
MDA provides help with the cost of repairs to all types of medical equipment required due to an individual’s neuromuscular disease. To request such assistance, it’s important to contact your local MDA office before repairs are completed. The amount allowable toward repairs is established by the Association annually.

Community resources
Services not provided by MDA are often available from other organized community agencies. MDA assists in securing help from these community resources.

"There's a multitude of support groups that MDA provides. We're able to sit down in a private setting and share our experiences with other families. By doing so we realize that we’re not alone and we actually realize that if we can start sharing information with others and helping others, that we can also help ourselves." — Jeff Vittek, California, parent of a child affected by myotonic muscular dystrophy