Medical education researcher Gregory Salinas, Ph.D. is conducting a survey to learn more about the challenges of patients suffering from type II or III spinal muscular atrophy (SMA). The 15-minute survey, mentioned in the website of Cure SMA, is for not only those who suffer from SMA but their caregivers, too, to better understand their specific challenges as well as their informational and educational needs.
The aim of the research is to develop a report that educates and informs supporters of SMA patients about patients’ needs while improving their situation by understanding their concerns and quality of life.
The report also hopes to provide details about the experiences of patients who have undergone clinical trials. It will also collect relevant educational material and topics that patients are currently missing.
SMA types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the limbs, respiratory, and bulbar or brainstem muscles of infants and children.
SMAs are the second most common autosomal-recessive inherited disorders after cystic fibrosis. SMA Type I affects about 1 per 10,000 live births, while the chronic Type II and III affect 1 in 24,000 births.
The disorders are caused by an abnormal or missing gene, called the survival motor neuron gene 1 (SMN1), which is necessary to the normal motor neuron function. This genetic anomaly causes the degeneration and death of lower motor neurons in the spinal cord.
SMAs are disorders that affect the entire family, not just the patient. Caregivers also experience higher stress levels and altered quality of life. To support patients and caregivers, it is important to have up-to-date information and data that educate affected people and improve their quality of life.
Responses to the survey will be handled confidentially and will not be linked back to the responder. If you live in the United States and you are age 21 or older, either a Type II or III SMA patient or caregiver, you can participate in the survey by clicking on this link. The passcode for the survey: 1sMa258
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