Stem Cell Treatment of   :     Muscular Astrophy

Patient: Ellie  
Diagnosis: Spinal Muscular Atrophy - Click Here to view

Spinal Muscular Atrophy (SMA) is a recessively inherited neuromuscular disease characterized by degeneration of spinal cord motor neuron, resulting in progressive muscular atrophy (wasting away) and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness. These patients often require comprehensive medical care involving multiple disciplines, including pediatric pulmonology, pediatric neurology, pediatric orthopaedic surgery, pediatric critical care, and physical medicine and rehabilitation; and physical therapy, occupational therapy, respiratory therapy, and clinical nutrition. Genetic counseling is also helpful for the parents and family members.

Spinal muscular atrophy is caused by a deletion or mutation in the survival motor neuron 1 (SMN1) gene. SMN1 was discovered in 1995 and is located on chromosome 5q11-q13.

SMA is characterized by degeneration of motor neurons in the anterior horns of the spinal cord, which leads to progressive symmetrical muscle weakness and atrophy. It affects approximately 1 in 6,000 to 10,000 newborns and previously was the second most common fatal autosomal recessive disorder after cystic fibrosis. Advances in the treatment of cystic fibrosis have resulted in a marked decrease in childhood mortality, such that spinal muscular atrophy is now the leading fatal autosomal recessive disorder in infancy. It is clinically subdivided in 3 types: Type 1 (Werdnig-Hoffmann Disease)is characterized by muscle weakness prior to 6 months of age. Affected infants are unable to sit without support. SMA Type 1 infants account for 60-70% of cases. Prognosis is grave, with most not surviving beyond their second birthday without respiratory support. SMA Type 2 is characterized by symptoms of muscle weakness prior to 18 months of age. Prognosis is widely variable. SMA Type 3 is characterized by the ability to achieve independent ambulation and a normal life expectancy. These patients suffer from proximal muscle weakness, frequent falls, and significant fatigue, yet 40 years after onset, 59% remain ambulatory. Often, these individuals go on to start families of their own. (Source: Spinal Muscular Atrophy Genetic Counseling Access and Genetic Knowledge: Parents' Perspectives by Meldrum, Scott and Swoboda, published in the Journal of Child Neurology, August 2007: