A Personal Story of the Diagnosis of SMA â€“ Adult
Steve remembers his early experiences with SMA.
So, what I remember about those initial years is that I remember spending a lot of time with my parents in doctorsâ€™ offices and so I knew that I was different than my brother and my two sisters. I was being taken around in a very tiny wheelchair and I was being examined by men in white coats. And so I knew that that was a bit of a different reality than it was and that things that I was doing was always going to be done or were going to be done in a wheelchair.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Testing, psychologist, neurologist, neuropsychologist, clinic, hospital, neurodegenerative, diagnosis, confirmation, pediatrician,check up, specialist, development, wheelchair, crawl
- ID: 16916
- Source: DNALC.SMA
- Download: MPEG 4 Video
Ron and Debbie talk about their son’s diagnosis with Type II SMA.
Esther and Frank talk about the diagnosis of their daughter, Maeve.
Dr. De Vivo discusses the diagnosis of SMA.
James talks of having a child with very severe Type I SMA.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
A patient reflects on the progression of his SMA when he was a child.
An animation shows alternate splicing of the SMN2 gene.
An animation introduces DNA and the pattern of inheritance for SMA.
An animation shows how drugs for SMA may be delivered via infusion into the spinal cord.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.