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Spinal muscular atrophy (SMA) is a progressive, autosomal recessive neuromuscular disease caused by survival motor neuron protein deficiency. SMA has four phenotypes, characterized by varying levels of severity and age of onset. Types 1 and 2 are the most common and the most deadly, affecting children from birth to age 2 years. SMA is the leading genetic cause of infant death.
In this ReCAP, neurologist Emma Ciafaloni, MD, explains how novel gene therapies for SMA disrupt the pathophysiology of the disease. Use of these agents should be left to a specialist who has expertise in monitoring progression of SMA. Dr Ciafaloni is director of the Muscular Dystrophy Association Clinic at Strong Memorial Hospital in Rochester, New York, where she leads a multidisciplinary SMA care team that includes a pulmonologist, pediatrician, physical therapist, orthopedist, and dietitian.
She recommends that pediatricians stay abreast of their state's position on newborn screening for SMA because research shows that early diagnosis and treatment can improve outcomes, including life expectancy and quality of life.
Professor of Neurology, Pediatrics, and Obstetrics and Gynecology, Department of Neurology, University of Rochester; Director, The Muscular Dystrophy Association Clinic; Program Director, Neuromuscular Medicine Fellowship, Strong Memorial Hospital, Rochester, New York
-- Emma Ciafaloni, MD, has disclosed the following relevant financial relationships:
Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Biogen; AveXis; Ra Pharmaceuticals, Inc.; Wave Pharma; Sarepta Therapeutics; Viela Bio; PTC Therapeutics; Strongbridge Biopharma
Serve(d) as a speaker or a member of a speakers bureau for: Biogen
Received research grant from: Santhera Pharmaceuticals; Sarepta Therapeutics; Orphazyme; PTC Therapeutics; US Food and Drug Administration; Parent Project Muscular Dystrophy; Cure SMA; Centers for Disease Control and Prevention
Spinal muscular atrophy (SMA) is a progressive, autosomal recessive neuromuscular disease caused by survival motor neuron protein deficiency. SMA has four phenotypes, characterized by varying levels of severity and age of onset. Types 1 and 2 are the most common and the most deadly, affecting children from birth to age 2 years. SMA is the leading genetic cause of infant death.
In this ReCAP, neurologist Emma Ciafaloni, MD, explains how novel gene therapies for SMA disrupt the pathophysiology of the disease. Use of these agents should be left to a specialist who has expertise in monitoring progression of SMA. Dr Ciafaloni is director of the Muscular Dystrophy Association Clinic at Strong Memorial Hospital in Rochester, New York, where she leads a multidisciplinary SMA care team that includes a pulmonologist, pediatrician, physical therapist, orthopedist, and dietitian.
She recommends that pediatricians stay abreast of their state's position on newborn screening for SMA because research shows that early diagnosis and treatment can improve outcomes, including life expectancy and quality of life.
Professor of Neurology, Pediatrics, and Obstetrics and Gynecology, Department of Neurology, University of Rochester; Director, The Muscular Dystrophy Association Clinic; Program Director, Neuromuscular Medicine Fellowship, Strong Memorial Hospital, Rochester, New York
-- Emma Ciafaloni, MD, has disclosed the following relevant financial relationships:
Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Biogen; AveXis; Ra Pharmaceuticals, Inc.; Wave Pharma; Sarepta Therapeutics; Viela Bio; PTC Therapeutics; Strongbridge Biopharma
Serve(d) as a speaker or a member of a speakers bureau for: Biogen
Received research grant from: Santhera Pharmaceuticals; Sarepta Therapeutics; Orphazyme; PTC Therapeutics; US Food and Drug Administration; Parent Project Muscular Dystrophy; Cure SMA; Centers for Disease Control and Prevention
Spinal muscular atrophy (SMA) is a progressive, autosomal recessive neuromuscular disease caused by survival motor neuron protein deficiency. SMA has four phenotypes, characterized by varying levels of severity and age of onset. Types 1 and 2 are the most common and the most deadly, affecting children from birth to age 2 years. SMA is the leading genetic cause of infant death.
In this ReCAP, neurologist Emma Ciafaloni, MD, explains how novel gene therapies for SMA disrupt the pathophysiology of the disease. Use of these agents should be left to a specialist who has expertise in monitoring progression of SMA. Dr Ciafaloni is director of the Muscular Dystrophy Association Clinic at Strong Memorial Hospital in Rochester, New York, where she leads a multidisciplinary SMA care team that includes a pulmonologist, pediatrician, physical therapist, orthopedist, and dietitian.
She recommends that pediatricians stay abreast of their state's position on newborn screening for SMA because research shows that early diagnosis and treatment can improve outcomes, including life expectancy and quality of life.
Professor of Neurology, Pediatrics, and Obstetrics and Gynecology, Department of Neurology, University of Rochester; Director, The Muscular Dystrophy Association Clinic; Program Director, Neuromuscular Medicine Fellowship, Strong Memorial Hospital, Rochester, New York
-- Emma Ciafaloni, MD, has disclosed the following relevant financial relationships:
Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Biogen; AveXis; Ra Pharmaceuticals, Inc.; Wave Pharma; Sarepta Therapeutics; Viela Bio; PTC Therapeutics; Strongbridge Biopharma
Serve(d) as a speaker or a member of a speakers bureau for: Biogen
Received research grant from: Santhera Pharmaceuticals; Sarepta Therapeutics; Orphazyme; PTC Therapeutics; US Food and Drug Administration; Parent Project Muscular Dystrophy; Cure SMA; Centers for Disease Control and Prevention
