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Spinal Muscular Atrophy

connecting project.

Catherine Wilkosz

on 11 March 2011

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Transcript of Spinal Muscular Atrophy

Spinal Muscular Atrophy What is it?
Spinal muscular atrophy is a genetic disease that begins by degenerating motor neurons causing immobility and even death of the patient. There are 4 types all depending on age and severity. Characteristics Higher occurance in males
Respitory failur
Innability to lift hands
Innability to walk
Uncontrolled head movement
Vibrations of the tounge
Difficulty swallowing
Difficulty breathing
Slowed motor responses
Skinny and unhealthy look of limbs

Both parents
25% chance
1 in 6000-10000 Types 1- need full support and die before 2. 2 - Cant walk but have most motor controls. 3 - Walk by themselves but may still have other symptoms. 4 - Seem normal but have difficulty in some areas of movement. May worsen over time. History In the early 1980s, two doctors named Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that resulted in early death, though the age of death varied. From there on, further research was put into the disease and in 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron (SMN), was discovered. Diagnosis Physical Medical Electromyography Blood Test Muscular Biopsy Support FightSMA.org
Paintings to Tiffany
Discoveries No real progress has been made yet but stem cell research is looking very promising. Right now SMA is here to stay... but hopefully for not much longer.
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