115 STAT. 824 PUBLIC LAW 107-84—DEC. 18, 2001 (8) Facioscapulohumeral muscular dystrophy (referred to in this section as "FSHD") is a neuromuscular disorder that is inherited genetically and has an estimated frequency of 1 in 20,000. FSHD, affecting between 15,000 to 40,000 persons, causes a progressive and sever loss of skeletal muscle gradually bringing weakness and reduced mobility. Many persons with FSHD become severely physically disabled and spend many decades in a wheelchair. (9) FSHD is regarded as a novel genetic phenomenon resulting from a crossover of subtelomeric DNA and may be the only human disease caused by a deletion-mutation. (10) Each of the musculeu" dystrophies, though distinct in progressivity and severity of S3miptoms, have a devastating impact on tens of thousands of children and adults throughout
the United States and worldwide and impose severe physiced and economic burdens on those affected. (11) Muscular dystrophies have a significEUit impact on quality of life—not only for the individual who experiences its pzdnful S3rmptoms and resulting disability, but also for family members and caregivers. (12) Development of therapies for these disorders, while resdistic with recent advances in reseeu-ch, is likely to require costly investments and infrastructure to support gene and other therapies. (13) There is a shortage of qusdified researchers in the field of neuromuscular research. (14) Many family physicieuis and health care professionals lack the knowledge and resources to detect and properly diagnose the disease as early as possible, thus exacerbating the progressiveness of symptoms in cases that go undetected or misdiagnosed. (15) There is a need for efficient mechanisms to translate cKnically relevant findings in muscular dystrophy rese2u*ch from basic science to applied work. (16) Educating the public and health care community throughout the country about this devastating disease is of pareunount importance and is in every respect in the public interest and to the benefit of sJl communities. SEC. 3. EXPANSION, INTENSIFICATION, AND COORDINATION OF ACTIVITIES OF NATIONAL INSTITUTES OF HEALTH WITH RESPECT TO RESEARCH ON MUSCULAR DYSTROPHY. Part A of title IV of the Public Health Service Act (42 U.S.C. 281 et seq.) is amended by adding at the end the following: 42 USC 283g. " SEC. 404E. MUSCULAR DYSTROPHY; INITIATIVE THROUGH DIRECTOR OF NATIONAL INSTITUTES OF HEALTH. "(a) EXPANSION, INTENSIFICATION, AND COORDINATION OF ACTIVITIES.— "(1) IN GENERAL. —The Director of NIH, in coordination with the Directors of the National Institute of Neurological Disorders and Stroke, the National Institute of Arthritis and Muscoskeletal £aid Skin Diseases, the National Institute of Child Health and Human Development, and the other national research institutes as appropriate, shall expand and intensify programs of such Institutes with respect to research and related activities concerning various forms of muscular dystrophy, including Duchenne, myotonic, facioscapulohumeral muscular
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