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There are many different modalities and activities that have been successful in progressing Michael, our patient with SMA, towards reaching his goals of less pain during activities as well as increased independence. Over the past four years, we have attempted many different techniques with Michael and have noted the ones…
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Every patient with SMA has different abilities and deficits as well as different ways of transportation. Most are unable to walk independently, therefore require assistance of some sort. Michael, our patient with SMA, has a power chair that he uses to navigate around. He has his controls on the right…
Research on SMA continues to forge ahead in 2020, with new results in from Roche’s latest investigation into its oral SMA drug, risdiplam. New tools for screening are being revealed as legislative changes are pushing more and more toward requiring infants born in the U.S. to be screened for SMA.
Patients with SMA often spend the majority of their time either in their wheelchair or in their bed. Since they can be fairly limited to these two places, it is important to increase their independence within those areas. Although my patient with SMA, Michael, will most likely not be able…
Understanding SMA Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy.1 In this paper, the authors elucidate a mechanism of the motor neuron degeneration that occurs in SMA. Specifically, the authors found that dysfunction of Stasimon, a protein of…
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