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 only in some forms of LGMD. Diagnosis is typically made based on history, physical examination, specialized tests including blood work, electromyography, muscle biopsy, and genetic testing.

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 diagnosed based on history, physical examination, electromyography, and genetic testing.

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 improvement in muscle weakness. Non-muscular manifestations of these disorders are also co-managed by rheumatology colleagues.

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Our program is composed of a multidisciplinary team of experts working together to provide each patient with the personalized care they need. For questions regarding your care, you can reach out to the appropriate contact below for more information.