The UofL Physicians – MDA Clinic helps improve the care of children with neuromuscular diseases by providing them and their families with highly specialized and convenient medical care in one, centralized location.
Neuromuscular diseases are rare acquired or inherited (genetic) conditions that affect some part of the neuromuscular system such as the:
Muscles
Peripheral motor nerves (in arms, legs, neck and face)
Neuromuscular junction where the nerves and muscles meet
Muscle-controlling nerve cells (motor neurons) in the spinal cord
The clinic is a partnership between UofL Physicians and the Muscular Dystrophy Association where patients can see a variety of knowledgeable specialists and therapists related to their care, including those in neurology, cardiology and pulmonology, in one single visit. This multidisciplinary approach allows us to deliver the highest-quality care by efficiently recommending treatment, therapies and adaptive equipment to improve function and well-being.
The Louisville clinic is one of 200 MDA specialized clinics nationwide, which adhere to a strict standard of care guidelines for treating children and adults with muscle diseases. MDA clinics are at the forefront of research and treatment methods. Most are located in academic settings, such as the University of Louisville, and some clinics, like ours, also serve as sites for clinical trials of the latest experimental therapies.
The affiliation with the MDA also allows patients and families to benefit from the MDA’s range of support services and resources, including education. The MDA is a nonprofit agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. It also provides comprehensive health care and support services, advocacy and education. Learn more about what the MDA offers here: www.mda.org.
The MDA covers over 43 different forms of neuromuscular diseases, including Duchenne muscular dystrophy, spinal muscular atrophy and Charcot-Marie-Tooth disease. For a complete list of diseases covered, click here.
Muscular dystrophy refers to a group of genetic muscle diseases marked by progressive degeneration of voluntary muscles. More than a million people in the United States are affected by some form of neuromuscular disease, and about 40 percent of them are under age 18. Neuromuscular diseases are rare acquired or inherited (genetic) conditions that affect some part of the neuromuscular system, and vary in genetic basis, age of onset, rate of progression and muscles affected.
All neuromuscular diseases are progressive in nature, and all result in muscle weakness and fatigue, though they vary in rate of progression and muscles affected. Some diseases are present at birth, some manifest in childhood and others have an adult onset.
The disease may be passed down through family genetic lines, and in some cases, a patient may have an affected sibling, parent or other relative. At other times, there isn’t a family history and the disease is the result of a spontaneous genetic mutation, an abnormal immune response or an unknown cause.
Life expectancy varies by disease and severity, from very short to normal length. Heart and respiratory problems, which are secondary effects of muscle deterioration, often are the cause of death.
The clinic is held once a month in a child-friendly environment. Visits last from two to three hours to allow time for a child to see all applicable specialists. During the visit, specialists work together to develop an individualized treatment plan for each patient.
As neuromuscular diseases can present in a variety of ways and at different ages, diagnostic examinations and laboratory tests will be performed to gather information and identify other problems. Many neuromuscular diseases can be quickly and accurately identified through a clinical examination and laboratory testing, such as tests for muscle strength and appearance and the amount of muscle proteins present in the blood. Some, however, can be more difficult to diagnose. A definitive diagnosis may require waiting until the diseases has progressed to a stage that is unique to that disorder.
During the visit, the specialists a patient may see include a:
Neurologist
Pulmonologist
Cardiologist
Orthopedist
Physical therapist
Occupational therapist
Physiatrist
Orthotist
Clinical nutritionist
Speech/language pathologist
Psychologist
Nurse educator and case manager
Dietician
Genetic counselor
Patients and their families may also see a health care social worker, who can help families with their daily challenges related to the disease.
An MDA health care service coordinator also will be present during the clinic to answer questions, distribute MDA educational materials, coordinate any MDA services you may require and assist with community resource referrals.
We also offer support groups for families.
Some of the treatments and services we offer are:
Physical therapy
Respiratory therapy
Speech therapy
Diagnostic testing for neuromuscular disease
Motor and sensory nerve conduction
Needle electromyography
Quantitative sensory testing
Autonomic testing
Genetic testing for families to determine whether other family members might be at risk
Physicians in this practice may not see patients at all locations listed below. For details, please call the appointment line for the location you are interested in visiting.
UofL Physicians - Child Neurology (Children's Hospital Foundation Building) 601 S. Floyd St. Suite 500 Louisville, Kentucky 40202 502-588-3650 View Google Map
Hospital Affiliations
Norton Children’s Hospital
Patients can see a variety of knowledgeable specialists and therapists related to their care, including those in neurology, cardiology and pulmonology, in one single visit. This multidisciplinary approach allows us to deliver the highest-quality care by efficiently recommending treatment, therapies and adaptive equipment to improve function and well-being.
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