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Wednesday, March 16, 2022 9:56:22 PM
Is HSP a disease?
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. ... The symptoms are a result of dysfunction of long axons in the spinal cord.
https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia
Although "hereditary," some cases (mine) are "sporadic," meaning they occur without any previous genetic occurrence. In most cases of HSP there is a family history of symptoms. But I'm the first in my family to have it; very possibly a result of a prenatal mutation caused by my mother's smoking. She was a nurse and in the 40s and 50s was exposed to X-rays, so those might have caused the mutation.
Fortunately, neither of my children, now in their 30s and 40s, have any symptoms. They and their children are free of the disease, thankfully.
There are up to 70 genotypes, genetic versions of HSP (with genomic testing, more are discovered each year). They are broken down into two general categories, "complicated" and "uncomplicated." In uncomplicated versions neuron dysfunctions are confined to the long motor neurons controlling leg muscles. With that, as in my case, I can walk adequately with a walker. But my HSP has caused a neurogenic bladder; urine fails to drain completely. I therefore had to have a suprapubic catheter surgically inserted at the Cleveland Clinic. My HSP appears to be non-progressing, thankfully.
But I so much want blarcamesine to be available for people (usually children) with complicated cases of HSP. In those cases, neurons across the body are dysfunctional, so muscles across the body are tight and spastic. Life for kids with complicated HSP is extremely difficult and painful. Tragic, altogether. Blarcamesine, producing optimized levels of gamma-aminobutyric acid (GABA) will surely be therapeutic, perhaps prominently so. For me, blarcamesine's GABA will allow me to walk normally, as I did in my early years. For children with complicated HSP, blarcamesine may allow them to live rather reasonably normal lives. In my hopes and prayers.
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