Muscular Dystrophy Association Clinic
UI Health is a designated Muscular Dystrophy Association Care Center by the Muscular Dystrophy Association. Directed by Dr. Charles Abrams, MDA clinic brings together a team of medical professionals to provide the most up-to-date care and treatment options for neuromuscular conditions. The typical conditions evaluated and treated in MDA clinic include limb girdle muscular dystrophies, myotonic dystrophy, facioscapulohumeral muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy, congenital myopathies, metabolic myopathies, idiopathic inflammatory myopathies, necrotizing myopathies, myasthenia gravis, Charcot Marie Tooth disease, and other forms of hereditary neuromuscular disorders.
- Limb Girdle Muscular Dystrophy (LGMD)
- LGMD is a heterogeneous group of genetic disorders, both with autosomal recessive and autosomal dominant inheritance patterns. These are typically progressive muscle disorders resulting from errors in the genes responsible for normal muscle function. LGMD group of disorders are characterized by progressive weakness and muscle atrophy in the shoulder girdle and pelvic girdle muscle distribution. There is a wide variety of clinical presentations, ranging between mild symptoms to severe weakness. Some disorders have onset of symptom in childhood, while others in adulthood. Cardiac involvement is common in some forms of LGMD. Diagnosis is typically made based on history, physical examination, and genetic testing. On occasion specialized tests including blood work, electromyography, muscle biopsy may be utilized.
- Myotonic Dystrophy (DM)
- Myotonic dystrophy is the most common form of adult-onset muscular dystrophy. There are two major forms, including type 1 DM and type 2 DM, both of which have autosomal dominant inheritance pattern. Congenital DM1 presents in infancy, characterized by profound hypotonia and weakness among other manifestations. Patients often have muscle pain and stiffness, typically due to slowed muscle relaxation called myotonia. Aside from progressive facial and limb weakness, there are other systemic manifestations of the disease including cataracts, cardiac abnormalities, weakness of respiratory muscles, sleep disturbance, endocrine abnormalities, gastrointestinal involvement, cognitive impairment. DM is typically diagnosed based on history, physical examination, and genetic testing. On occasion specialized tests including blood work, electromyography, and muscle biopsy may be utilized.
- Facio-Scapulo-Humeral Muscular Dystrophy (FSHD)
- Facioscapulohumeral dystrophy (FSHD) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, primarily affecting the muscles of the face, shoulders, and upper arms. FSHD often manifests in adolescence or early adulthood, although the severity and progression of symptoms can vary widely among individuals. Common signs include difficulty in raising the arms, smiling, or closing the eyes fully. While there is currently no cure for FSHD, management focuses on physical therapy, pain relief, and supporting mobility to help individuals maintain function and quality of life. FSHD is typically diagnosed based on history, physical examination, and genetic testing. On occasion, specialized tests including blood work, electromyograph, and muscle biopsy may be utilized.
- Idiopathic Inflammatory Myopathies
- These are a group of acquired muscle disorders that result in muscle inflammation and necrosis, typically presenting in adulthood, characterized by weakness in the shoulder girdle and pelvic girdle muscle distribution. The major subtypes of these muscle disorders include dermatomyositis, immune-mediated necrotizing myopathy, myositis of the antisynthetase syndrome, polymyositis, myositis as part of the rheumatic disease overlap syndrome, and inclusion body myositis. Diagnosis is based on clinical presentation, physical examination, serum blood work, electromyography, muscle MRI, muscle biopsy, and additional subspecialized tests to evaluate for other systemic involvement. Typically, this group of muscle disorders is treated with immunosuppression, which results in muscle weakness improvement. Non-muscular manifestations of these disorders are also co-managed by rheumatology colleagues.
Contact Us
Our program is a multidisciplinary team of experts working together to provide each patient with the personalized care they need. For questions regarding your care, reach out to the appropriate contact below.
- Neuromuscular Nurse 312.996.8540
- EMG Lab Technician: 312.996.4780
- Genetic Counseling: 312.996.0296
- Nutrition: 312.413.3631
- Orthotics: 773.878.2445
- Occupational Therapy: 312.996.3700
- Physical Therapy: 312.996.3700
- Pulmonology: 312.355.1091
- Respiratory Services: 312.996.4335
- Speech Pathology: 312.996.3714
- Social Work: 312.355.2240