Childhood Onset Survey 2022 Report - Flipbook - Page 21
What is Hereditary Spastic Paraplegia (HSP)?
-a simple explanation by two moms; Ece Filiz & Bridget Lassig (2023)
HSP is a rare genetic disorder. A mutation in any one of up to 80+ genes
discovered to date can result in a range of symptoms. The primary symptom is
changes to the legs, including spasticity, weakness, and sometimes cramping.
This is caused by the degeneration of upper motor neurons that travel from the
brain to the legs. The severity of symptoms ranges from minor balance issues to
complete dependence on a wheelchair for mobility.
HSP can manifest as Pure, with symptoms affecting only the lower extremities.
In other cases, it can be Complex (or sometimes referred to as “complicated”),
affecting, in addition to the lower extremities, other systems such as speech and
fine motor skills.
HSP symptoms can begin at any age. New research is suggesting that the age at
which symptoms begin might have to do with the specific mutation a person has
within each Type or gene involved (i.e. SPG4). The severity of symptoms for
each variant can range widely; an area of active research is looking to
understand how an individual may have protective factors that reduce the
intensity of the symptoms.
HSP, as the “hereditary” in the name suggests, is most often inherited from
parents. On the other hand, there seems to be increasing awareness of de novo
cases, i.e. cases that occur due to a spontaneous mutation in an individual.
At present , there are no cures for HSP, and treatment is focused on managing
the symptoms.. However, there is a growing field of passionate and dedicated
researchers actively exploring therapeutic options and working towards clinical
trials. Their areas of research include gene editing (CRiSPR), gene replacement,
ASO, mRNA and drug repurposing.
Identifying and engaging families affected by HSP can provide valuable data for
developing and testing new treatments. When it comes to finding a cure for a
rare disease such as HSP, there is strength in numbers.
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