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A collection of resources for individuals and families affected by Spastic Paraplegia type 7 (SPG7).
Spastic paraplegia type 7 (SPG7) is caused by a genetic mutation that is passed on from parents to their children. It is also sometimes called hereditary spastic paraplegia type 7 (HSPG7). SPG7 leads to problems with balance and coordination, as well as leg spasms and weakness.
For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia? page. This page contains NAF’s resources that are specific to SPG7.
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Presented by Gerald Pfeffer, MD, PhD
This webinar gave an overview of the causes and symptoms of SPG7, the typical diagnostic journey for those affected, and what to expect for clinical care, and an overview of current research into the disease.
NAF offers webinars on many topics to help you live better with Ataxia. Visit www.ataxia.org/webinars to find other helpful presentations.
Participating in a research study or clinical trial is one way to take an active role in furthering understanding and treatment of Ataxia. It is also a way to get access to new treatment options before they are widely available. To find studies that are enrolling patients, visit our Help Develop New Treatments page.
Spastic paraplegia type 7 (SPG7) is a rare neurodegenerative disorder. It is caused by mutations in the SPG7 gene. We don’t have a good understanding of how common SPG7 is. It is estimated that, if you count all forms of hereditary spastic paraplegia, the combined prevalence is around 2 to 6 in 100,000 people worldwide. However, SPG7 would only count for a small portion of this total number.
There are two forms of SPG7: pure and complex. Patients with the pure form of SPG7 only experience spasticity and muscle weakness. However, a patient with the complex form of SPG7 will develop spasticity, muscle weakness, and ataxia.
Like many other forms of Ataxia, complex SPG7 is marked by poor balance and coordination. In fact, the word Ataxia means incoordination. There can also be problems coordinating muscles that control speech, swallowing, and vision.
People with SPG7 may also develop neuropathy, which is the progressive loss of feeling in the hands and/or feet. Less common symptoms of SPG7 may include high-arched feet, curves in the spine, urinary problems, mild hearing loss, and muscle wasting.
SPG7 symptoms usually begin between the ages of 30 and 45 years. However, symptoms can begin in childhood or late adulthood. The onset of SPG7 symptoms varies greatly among patients. The severity of SPG7 symptoms may also vary between patients, even within families.
SPG7 is a progressive disorder. Most patients will require the use of a wheelchair, either due to poor coordination or muscle weakness. Treatments such as physiotherapy, occupational therapy, and speech-language therapy can significantly improve the lives of people with SPG7.
SPG7 is a genetic disorder, which means that it is an inherited disease. The abnormal gene responsible for this disease is passed along from generation to generation by family members who carry it. Men and women are equally likely to inherit the genes that cause SPG7.
Genetic diseases like SPG7 occur when one of the body’s 20,000 genes does not work properly. Genes are microscopic structures within the cells of our bodies that contain instructions for every feature a person inherits from his or her parents.
SPG7 is an autosomal recessive condition. This means that an individual only develops symptoms of the disease if both copies of their SPG7 gene are not working properly.
An individual who has one copy of an altered or nonfunctioning SPG7 gene does not develop any neurological symptoms and is called a carrier. For people who are carriers, the normal SPG7 gene compensates for the nonfunctioning copy of the gene. However, a child whose parents are both carriers can inherit a “double dose” of the altered SPG7 gene and will therefore develop SPG7.
Most of the time, carriers have no idea that they have an abnormal SPG7 gene. This is because they do not have any symptoms or medical problems. It is often only when a child is diagnosed with SPG7 that the parents learn that they are both carriers. When both parents are carriers, each of their children has a 25 percent chance of having SPG7 and a 50 percent chance of being a carrier.
Gene tests can be performed for diagnostic purposes to determine what kind of Ataxia is within a person or family. Genetic testing can also be done, in some circumstances, even before there are symptoms, to determine whether a person carries the abnormal gene or genes that cause Ataxia. This is called predictive or presymptomatic testing. A gene test can also be used to determine whether a fetus has an abnormal Ataxia gene. This is called prenatal testing. Anyone who is considering a predictive or prenatal test should consult with a genetic counselor to discuss the reasons for the test, the possible outcomes, and how those outcomes might affect the person emotionally, medically, or socially.
A neurologist is often the most helpful specialist in recognizing symptoms and diagnosing the disease that causes Ataxia. A neurologic examination can determine whether a person has symptoms typical of SPG7. There are several potential follow-up tests. MRI brain imaging may be used to confirm cerebellar atrophy. Electromyography (EMG) may be used to test for neuropathy.
A definitive diagnosis of SPG7 is established following genetic testing. This confirms that someone has a mutation that causes SPG7 in their SPG7 gene.
SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit SCAsource to see their full collection. Here is a collection of articles about SPG7.
Spasticity is a condition where muscles involuntarily stiffen, impeding normal smooth movements. Spasticity can present in varying severities with varying impacts on daily life. For example, minor spasticity resulting in Read More…
A gene is the basic physical unitof heredity. Every living cell contains genetic information that determines an organism’s development, form, and function. This genetic information is encoded by two macromolecules: Read More…
What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be Read More…
What is it? Magnetic resonance imaging (MRI) is a type of technology used to take detailed pictures of the body. It is commonly used to detect abnormalities in the body, Read More…
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