Muscular dystrophies are a diverse group of genetic disorders that cause weakness of muscles throughout the body, with consequences including impaired movement, breathing disorders, and heart failure. Similarly, spinal muscular atrophy and the hereditary neuropathies cause weakness, pain, and difficulty in walking and breathing in some cases.
These diseases can begin in childhood, but with improving therapies many patients now reach adulthood. Muscular dystrophy may also be diagnosed in adults with new or longstanding muscle weakness.
UC San Diego Health is the only program in San Diego for comprehensive care of adults with muscular dystrophy. Launched in January 2016, our program includes regular multidisciplinary care involving a neurologist and pulmonologist, with additional specialists available via referral.
We focus on providing state-of-the-art care for adults with muscular dystrophy, including expert clinical evaluation, genetic testing, novel therapies, pulmonary function and sleep testing, and ventilatory support.
Conditions Commonly Treated
- Duchenne and Becker Muscular Dystrophy
- Spinal muscular atrophy
- Myotonic dystrophy
- Limb girdle muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Myasthenia gravis and myasthenic syndromes
- Congenital myopathies
- Congenital muscular dystrophies
- Charcot-Maries-Tooth disease and other hereditary neuropathies
- Inclusion body myositis
- Inflammatory myopathies
- Friedreich's ataxia
- Metabolic disease
- Mitochondrial myopathies / diseases
Our clinic is supported by the following organizations:
We also work with In-Depth Diagnostics, a non-profit organization that provides free genetic testing for patients with genetic neurological disorders.