A number genetic problems can cause proteins essential for the proper functioning of muscle cells to be formed incorrectly. This causes progressive muscle weakness that can show up at birth, childhood or not until later in adulthood. Some of these disorders are referred to muscular dystrophies.
Recent breakthroughs in genetic testing help facilitate the diagnosis of muscular dystrophies. However, given that there are dozens of types of muscular dystrophy, this testing is complicated and should be interpreted by someone with proper training and experience. Furthermore, genetic testing is not adequate for diagnosis in every case and a test called a muscle biopsy may be needed. Dr. Saperstein has advanced training in the performance and interpretation of muscle biopsies.