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Hereditary spastic paraplegia is the term for a group of inherited neurological disorders characterized by weakness and spasticity or stiffness of the leg and hip muscles. There are at least 20 known types of hereditary spastic paraplegia, which is estimated to affect 20,000 people in the U.S.
An inherited disease is caused by a gene mutation passed down from either the father or mother. With hereditary spastic paraplegia, these gene mutations alter the code for proteins involving the nerves in the brain and spinal cord, thus disrupting their proper function. There are three different modes of inheritance for hereditary spastic paraplegia: autosomal dominant, autosomal recessive and X-linked. Each mode has a different risk factor, ranging from almost zero to 50 percent. The most common form of hereditary spastic paraplegia, autosomol dominant, carries a 50 percent risk of inheritance.
The most common form of hereditary spastic paraplegia is called "uncomplicated," meaning the progressive spasticity is an isolated occurrence unrelated to any other neurological functions. Symptoms of the degenerative disease often begin between the second and fourth decades of life, although they can start anywhere from early childhood to very late adulthood. Common early symptoms of hereditary spastic paraplegia include difficulty with balance, abnormal walking manner - such as dragging the toes - and repeated tripping or falling. Associated symptoms with a later onset include urinary urgency and frequency, hyperactive reflexes, diminished senses in the feet and painful spasms or cramps in the lower limbs.
Rarely, other neurological abnormalities - including mental retardation, epilepsy, dementia, deafness and eye impairments - occur alongside symptoms of hereditary spastic paraplegia. When these types of simultaneous symptoms are present, the disorder is considered to be "complicated" hereditary spastic paraplegia.
There is no cure for hereditary spastic paraplegia, and there are no specific treatments to prevent, slow or reverse the symptoms. Treatments are generally symptom-related, using medication to reduce spasticity and bladder problems, physical therapy to help maintain flexibility, strength and range of motion, assistive devices such as walkers or canes to aid in mobility, and psychological therapy or medications to ease disorder-related depression.
Life expectancy for people afflicted with hereditary spastic paraplegia is normal. However, the severity of the disorder''s symptoms varies individually, with some people experiencing disabling effects while others are affected more minimally. Additionally, many sufferers find the severity of their symptoms is heightened when they feel angry or stressed. Some experience problems with their arms or fingers, although the degeneration of the related nerves is relatively mild, causing minimal damage to these extremities. Hereditary spastic paraplegia rarely results in complete loss of lower mobility.
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