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Hereditary Spastic Paraplegia

 

 

Hereditary Spastic Paraplegia (HSP) refers to a group of degenerative spinal cord disorders characterized by gradual, progressive weakness and stiffness (spasticity) of the legs.  Approximately 10,000 people in the United States are afflicted with HSP.

 

In HSP, the motor nerves that innervate the lower limbs start to deteriorate.  This results in difficulty with balance, weakness and stiffness of the legs, muscle spasms, and dragging of toes while walking.  Onset is generally during childhood but occasionally symptoms do not appear until later in life.  The severity and progression of the disease also varies, even among families.  Other symptoms include shortened Achilles tendon, leg cramps, hyperactive reflexes, and high arch feet (pes cavus). 

 

HSP is classified as either uncomplicated or complicated.  Complicated HSP is rare and differs from uncomplicated HSP by the presence of other neurological disorders such as ataxia, epilepsy, optic and retinal neuropathies, mental retardation, ichthyosis and many others.  There is no specific test to diagnose HSP.  HSP is diagnosed only through careful elimination of other diseases that share common symptoms.  Treatment aims to alleviate the symptoms.  Physical therapy is important to maintain muscle strength and prevent further muscle weakness.  Although the disease is progressive, rarely do patients ever become completely immobile.  Assisted devices such as a cane or walker, however, are usually needed. 

 

Within the two forms of HSP are also different types classified according to their mode of inheritance.  Autosomal, recessive and X-linked forms of HSP have been found, the most common of which is the autosomal dominant form.  Genetic analysis to determine the type of HSP present is now available.  Genetic counseling and a thorough genetic evaluation is strongly recommended to families with a history of HSP or any other hereditary disorder.  Certain forms of X-linked diseases are more prevalent in one gender over another.  A new option, Preimplantation Genetic Diagnosis (PGD), is now available to couples in this situation. PGD tests an embryo for known genetic defects and is able to determine the gender of an embryo prior to implantation.  Implanting only specific embrya, either male or female depending on prevalence of that specific disease, will greatly reduce the chances of transmitting the disease.   A genetic counselor will determine whether PGD will be of benefit to a couple.

 

 

Click here for more information on PGD

 

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Last modified: 06/09/04