Hereditary spastic paraplegia (HSP) 5A
What is hereditary spastic paraplegia (HSP) 5A?
Hereditary spastic paraplegia (HSP) 5A is an inherited condition that affects the nerves, brain, and muscles. It is part of a larger group of disorders known as hereditary spastic paraplegias. The main medical issues of these conditions include muscle stiffness, tightness (spasticity), and weakness (paraplegia) in the lower legs and feet.
There are typically two types of hereditary spastic paraplegias: uncomplicated or complicated. Uncomplicated hereditary spastic paraplegias are also sometimes referred to as "pure" hereditary spastic paraplegias. Uncomplicated hereditary spastic paraplegia is typically limited to spasticity and weakness of the lower legs and feet. Individuals with complicated hereditary spastic paraplegia can also have symptoms that include the lower legs and feet, but also changes the way the brain, eye, nerves, and muscles work leading to issues like intellectual disability, abnormal eye movements, muscle wasting (atrophy), and nerve pain (neuropathy). Both uncomplicated and complicated hereditary spastic paraplegias have been reported in individuals affected with hereditary spastic paraplegia 5A.
Individuals with hereditary spastic paraplegia 5A of either type can also have problems with bladder control, high arches of the feet (pes cavus), or lack of muscle coordination (ataxia). The age of onset for hereditary spastic paraplegia 5A is typically around adolescence, but the time symptoms start is variable and can range from infancy to adulthood. This condition typically progresses slowly over time and many individuals will eventually require assistance with walking, or use of a wheelchair.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hereditary-spastic-paraplegia-hsp-5a-109940/overview/66993 • DATE UPDATED: 2019-03-24
Genetics home Reference, Spastic Paraplegia Type5a https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a# Accessed 28NOV18.
Hedera P. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2018 Sep 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/books/NBK1509/