About HSP (Hereditary Spastic Paraplegia)


General Information

This material has been reviewed by Dr John Fink, M.D., SPF Medical Advisor. Please see the Glossary to help with medical terms.

Index:
  • Many people find the tightness in their muscles worsens when they are angry, stressed, or upset. This may make it more difficult to walk and speak. It is unknown exactly how emotions affect muscle tone, but it may involve adrenalin levels. Most people also report increased stiffness in cold weather.

  • Periods of feeling down about having HSP are normal and expected. It is not uncommon for people to also experience periods of clinical depression.

  • Memory disturbance has been reported in some individuals with HSP due to spastin gene mutations. In general, it was mild. Before attributing memory disturbance to HSP, it is important to consider other causes: stress, anxiety, depression, lack of sleep, medications (including Baclofen), other health conditions including vitamin B12 deficiency. If memory disturbance is significant, a cause of concern, or worsening, it would be important to discuss this with your primary physician and neurologist.

  • 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”.

  • Some people may experience problems with their arms or fine motor control of their fingers. The degeneration in nerves that supply the arms is mild compared to that which occurs in the nerves that supply the legs. For most people, this is not significant.

  • The short answer appears to be “yes”, although it is important to remember that sexual desire and/or function can be affected by many other factors such as age, stress, depression, fatigue, medical disorders or medications. Some people report that stiffness, spasms and cramps that are part of HSP may either inhibit (or intensify) orgasm, or that orgasm may bring on leg stiffness, spasms or clonus. Stiffness of the legs or arms may cause difficulty using certain positions for intercourse. Baclofen, particularly intrathecal baclofen, has been linked to anorgasmia (type of sexual dysfunction in which a person cannot achieve orgasm, even with adequate stimulation) after a number of years of use.

  • No. The group of disorders known as Ataxias (such as Friedreichs Ataxia) are spino-cerebellar disorders in which there is a disturbance either in the part of the brain known as the cerebellum or in the connections to it. HSP does not involve the cerebellum. Ataxias can be hereditary or sporadic. The term “ataxia” means without coordination, and can also refer to a symptom in which there is a lack of muscle control resulting in a jerky or unsteady movement. People with HSP may have in coordination as a symptom. This does not mean they have Ataxia.

  • HSP cannot be passed to others through donation of blood. There is no medical reason why a person with HSP cannot donate blood.

  • In the late 1800’s, A. Strümpell, a neurologist in Heidelberg Germany, described this disorder. He observed two brothers and their father, who had gait disorders and spasticity in their legs. After the death of the brothers, Strümpell was able to show through autopsy the degeneration of the nerve fibers leading through the spinal cord. The disorder was originally named after Strümpell, and after two Frenchmen who later provided more information about the disorder, Lorrain and Charcot.

  • There is no evidence that HSP is more prevalent in one ethnic group than another.