Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. The condition is characterized by insidiously progressive lower extremity weakness and spasticity.

Family misdiagnosis

Written by waddles1, published 4 months ago.

Always assumed our Mother had MS but after being diagnosed with HSP did some digging and found out her father had 'paraplegia.'

My sister, Pam was diagnosed with MS about 15 years ago. The assumption was that as our Mother had MS she had inherited it. Our mother died in 1974 and had symptons since the early 1950's. When I started to trip and walk a bit stiff legged, I was diagnosed with HSP.
My specialist was fascinated by Pam's diagnosis, so after being hospitalised and tested it was discovered not to be MS but HSP.

Pam had the baclofen pump put it and that worked until she had a trapped nerve and needed spinal fusion to some discs in her back.
She had complications after that and couldn't exercise for months so she got weaker. She now walks with two crutches.

I still walk unaided and take 40mg baclofen which helps with the stiffness. I feel like a pretender as I haven't progressed with the disease very much in 6 years.

After we were both diagnosed I obtained my grand father's death certificate and sure enough one of his illnesses was 'paraplegia' which seems to have started in his late 50's. He was 64 when he died.

I am 60 and as I said I am one of the lucky ones.

Bev

Written by waddles1, published 4 months ago.

One comment for «Family misdiagnosis»

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  • saranoh
    saranoh | published 6 days ago | Originally written in English

    I have not been diagnosed with HSP. Instead, my docs who are wonderful and brilliant have said in absence of any hereditary information, I have a possible diagnosis of lower motor neuron disease or possibly multiple radiculopathies but I have brisk patellar reflexes so you can imagine that I am petrified right now. I did learn from my 85 year old mother that her aunt who came over from Ireland at age 9 in 1913 was "crippled" with a "cause from HSP disease." My mother said her aunt walked with a pronounced limp that made it look like she had one shorter leg. How reliable is a 1913 diagnosis? I don't know. I am hoping I have HSP while dreading having anything hereditary because I have two small children who have no symptoms. I have all the symptoms of HSP plus twitching and right calf wasted but I really have NO idea what spasticity is. I have gotten severe leg cramps for many years. Is that spasticity? What about my fasciculations? Also, I am hyper sensitive to almost every drug: aspirin, Ibuprofen, caffeine and had to go off 25 mg Zoloft because it was really making me twitch and cramp. Any ideas are appreciated.

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