What is Spastic Paraparesis?

Ashleigh has Spastic Paraparesis, which is "a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. Researchers estimate that some 30 different types of HSP exist; the genetic causes are known for eleven. The HSP incidence rate in the United States is 20,000 people." (From HERE)

Many different names are used for Spastic Paraparesis.  Most common are Hereditary Spastic Paraplegia or Paraparesis (HSP), Familial Spastic Paraparesis or Paraplegia and Strumpell-Lorrain Disease.  Others are Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer Syndrome, & Silver Syndrome.

Symptoms:
Progressive difficulty walking due to increasingly weak and stiff (spastic) muscles
Difficulty with balance, stubbing the toe or stumbling
Urinary urgency and frequency
Hyperactive reflexes
Difficulty with balance
Clonus
Babinski's sign
Diminished vibration sense in the feet
Muscle spasms
Congenital foot problems such as high arched foot
Stubbing the toe or stumbling
Some people may experience problems with their arms or fine motor control of their fingers.

As the disease progress, we may have to Ashleigh use canes, walkers & eventually a wheelchair, but we won't know when or if this will happen.  Ash could be in her 70's by this time.  We are trying to keep Ash out of a wheelchair as long as possible.  Right now Ash has trouble with her balance, which she has stubbed her toe & has gotten a fungal infection.  I learned from her foot doctor that if you stubbed your toe, that you could get a fungal infection.  I can not remember how he put it.  I think it is because Ash did not tell us.  If we had know, we could kept an eye on it.  Ash goes back to see him soon & I am going to ask him since stubbing her toes is on here.  Ashleigh has clonus, which are voluntary muscle contractions.  When Ashleigh has clonus, it freaks her out.  It started November, 2011.  The last couple months it has gotten worse.  Her meds for it has increase.

There are people with uncomplicated HSP, but there are also rare, complicated forms, & the additional symptoms are: peripheral neuropathy, ichtyosis (a skin disorder) epilepsy, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, deafness or problems with speech, swallowing or breathing.  These may have other causes & unrelated to HSP.  

In the Summary Chart, it says that "30% of individuals with HSP do not have documented family history".  (HERE). We are in  that 30%.  Before Ashleigh was diagnosed, we did not hear of this disease.  It was hard to hear at first, but it was better than what we had.

I wanted to go a little further into the feet problems because Ashleigh has some.  She had flat feet when she was little, but I am not sure now.  I need to ask her physical therapist if she has high arched feet and/or shortened achilles tendons.  I don't think her clonus is in her feet.  She does has a bunion in her one foot.  

Are foot problems common?

Yes. Here are a few examples:

• High arched feet (pes cavus). High arches occur because there is more weakness in the foot muscles that extend the foot backward and flatten the arch than in the muscles that flex the foot downward.
• Shortened Achilles tendons. Achilles tendons are often short, and generally shorten further as HSP progresses.
• Jumping feet (clonus). Clonus is an uncontrollable, repetitive jerking of muscles that makes the foot jump rapidly up and down. It occurs when the foot is in a position that causes a disruption of the signals from the brain, leading to an automatic stretch reflex.
• Hammer toes or bunions. These may occur due to imbalances in the strength and tone of muscles that maintain proper alignment of joints in the feet.
• Cold feet and/or foot swelling. This is most likely caused by poor circulation. Normally, muscle contractions in the legs help pump blood from the legs back to the heart. If the muscles are weakened, or if the person is relatively inactive, the blood flow from the legs may be decreased, and fluids may accumulate. This can cause swelling, or a sensation of “cold feet”.

Have a good night!!
Melissa