Diagnosis How type affects treatment Rarer types FAQs Spinal muscular atrophy, or SMA, is a genetic disorder that is divided into five main types. Historically, people were categorized based on the age at which symptoms first appear, but now, in the genetic era, people are often categorized ba...
SMA life expectancy varies depending on the type of SMA, a person's age at onset, and how soon treatment is started after a diagnosis.
The diagnosis has also helped Marci understand some less obvious aspects of her life. "I used to trip and fall a lot, but I didn't know why until I got this diagnosis," she says, recalling how that impacted her travel experiences. But she has learned to adapt. ...
The Sahlgrenska University Hospital Neuromuscular centre has a total of 19 adults with a DNA-verified diagnosis of SMA. Six patients with type 2 (range = 19–69 years) and 13 type 3 (range = 20–67 years). Clinically we have noticed that four of these patients show signs of neurogenic ...
SMA has differential diagnosis methods based on the type and age of onset. If a person shows common SMA symptoms and/or has a family history of the disease, further tests should be conducted so as to enable such a diagnosis. Given the variability of symptoms across the different types of ...
Diagnosis Treatment Options Comments More Spinal muscular atrophy (SMA) is a hereditary disorder characterized by progressive muscle weakening and atrophy that destroys motor neurons. Spinal muscular atrophy (SMA) is a hereditary disorder characterized by progressive muscle weakening and atrophy (when...
There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients. The aim of this paper was to critically review the literature reporting real world data on motor function in type 2 and 3 patients tr
Her daughter Isabella Joy, who prefers to be called Bell, was visiting a neurologist, when he told the young mom his diagnosis. “The neurologist sent me to a geneticist to have yet more blood work done,” Davis said. “On August 29th of 2011, just two months before Bell’s second bir...
Testsea is specialized in the research, development, production and sales of raw materials for medical diagnosis and food safety testing. We have applied for 28 kinds of patents which cover medical diagnosis, food safety rapid testing, food enzymatic immunoassay and new enzyme preparation. ...
Wong concludes: “If approved, OAV101 IT could significantly enhance patient outcomes in markets where NBS or early diagnosis remains a challenge.” *7MM = The US, France, Germany, Italy, Spain, the UK, and Japan. Media Enquiries If you are a member of the press or media and requir...