Familial Spastic Paraplegia

Familial Spastic Paraplegia, FSP, is also known as hereditary spastic paraplegia, HSP. Because it is a rare disorder, it is often misdiagnosed and therefore make the actual frequency rate difficult to determine. However, it is estimated that there are fewer than 10,000 cases in the United States and approximately three persons per 100,000 in Europe (Hereditary pg). Moreover, estimates indicate that about ten percent of people with familial spastic paraplegia have complicated FSP (Hereditary pg).

The life expectancy for patients with uncomplicated FSP is typically unchanged, while life expectancy for those with complicated FSP are difficult to generalize since each individual has unique symptoms (Hereditary pg). Uncomplicated FSP can occur from infancy through late adulthood, yet "most patients experience the onset of symptoms in the second through fourth decades of life" (Hereditary pg).

Familial Spastic Paraplegia is not a single disease, but rather refers to a group of "clinically and genetically diverse disorders that share the primary feature of progressive and generally severe lower-extremity weakness and spasticity" (Hereditary pg). The symptoms for uncomplicated forms of FSP are generally include gradual weakening in the legs, urinary bladder disturbance, and impaired sensation in the feet (Hereditary pg). Complicated forms of FSP may be accompanied by other neurological symptoms, including "optic neuropathy, retinopathy, dementia, ataxia, icthyosis, mental retardation, peripheral neuropathy, and deafness" (Familial pg).

Additional symptoms may be related to separate disorders and not directly caused by the FSP (Hereditary pg). A patient may actually have uncomplicated FSP, plus 1 or more other disorders, for example, a patient with uncomplicated FSP may have "peripheral neuropathy caused by diabetes or may have unrelated epilepsy" (Hereditary pg). Complications associated with FSP include gastrocnemius-soleus contracture, cold feet, fatigue, stress, depression, back pain, knee pain, and denial (Hereditary pg). To exclude other disorders, diagnosis is by neurological examination and testing (Familial pg).

Physicians apply the diagnosis of FSP to patients whose leg muscles show symptoms of spasiticity, paraparesis, or paraplegia, "especially when similar symptoms occur in other members of the patient's family die to inherited DNA changes" (What pg). Physicians also use the "familial spastic paraparesis/paraplegia diagnosis for cases with similar symptoms that may result from family members' exposure to shared environmental factors, rather than to genetic causes" (What pg). Although, there are no specific treatments to prevent, slow, or reverse familial spastic paraplegia, "symptomatic treatments used for.