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
16915. A Personal Story of the Diagnosis of SMA – Child
Ron and Debbie talk about their son’s diagnosis with Type II SMA.
16914. A Personal Story of the Diagnosis of SMA – Toddler
Esther and Frank talk about the diagnosis of their daughter, Maeve.
16912. Diagnosis of SMA
Dr. De Vivo discusses the diagnosis of SMA.
16913. A Personal Story of the Diagnosis of SMA -Infant
James talks of having a child with very severe Type I SMA.
16950. 2D Animation of Antisense Oligonucleotide Therapy for SMA
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
16921. An Adult's Reflection on the Progression of SMA as a Child
A patient reflects on the progression of his SMA when he was a child.
16941. 2D Animation of Alternative RNA Splicing
An animation shows alternate splicing of the SMN2 gene.
16931. 2D Animation of Genes and Inheritance
An animation introduces DNA and the pattern of inheritance for SMA.
16952. 2D Animation of Intrathecal Drug Delivery for SMA
An animation shows how drugs for SMA may be delivered via infusion into the spinal cord.
16909. Introduction to SMA
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.