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Hereditary Spastic Paraplegia (HSP)

Hereditary Spastic Paraplegia (HSP)

Hereditary Spastic Paraplegia (HSP) is a term used to describe a group of rare, inherited neurological disorders along the motor neuron disease continuum whose primary symptom is progressive spasticity (stiffness) and weakness of the leg and hip muscles. There are at least twenty different types of HSP; however, genetic causes are known for only eleven of them. It is estimated that approximately 20,000 individuals are affected by HSP in the U.S. Other names for this disorder include Familial Spastic Paraparesis (or Paraplegia), Strümpell-Lorrain Disease, Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome and Silver syndrome.

In the late 1800's, a neurologist in Heidelberg, Germany named A. Strümpell first described HSP. He observed two brothers and their father, who had gait disorders and spasticity in their legs. After the death of the two brothers, Strümpell was able to show, through autopsy, the degeneration of the nerve fibers leading through the spinal cord. HSP was originally named after Strümpell.

HSP is caused by degeneration of the upper motor neurons in the brain and spinal cord. These neurons control voluntary movement; and the cell bodies of these neurons are located in the motor cortex area of the brain. They have long, hair-like processes called axons that travel to the brainstem and down the spinal cord. The axons relay messages to lower motor neurons that are located all along the brainstem and spinal cord. Lower motor neurons then carry the messages out to the muscles. This results in a progressive increase in muscle spasticity and weakness. The upper body may be minimally affected is some cases, resulting in problems with arm or speech and swallowing muscles.

Spastic paraplegia symptoms can also be caused by other conditions. A virus-caused disease with symptoms similar to HSP is Tropical Spastic Paraparesis. Disorders with spastic paraplegia symptoms termed Lathyrism and Konzo are caused by toxins in the plants Lathyrus sativus and cassava. Other causes of spastic paraplegia include (but are not limited to) primary lateral sclerosis, spinal cord injury or tumors, cerebral palsy, multiple sclerosis, amyotrophic lateral sclerosis, vitamin absorption issues, and thoracic spine herniated disks.

HSP may not always be hereditary. Non-hereditary HSP is referred to as Spastic Paraplegia or Apparently Sporadic Spastic Paraplegia rather than Hereditary Spastic Paraplegia. Some clinicians may diagnosis the same condition as Primary Lateral Sclerosis which mimics HSP but eventually also involves the arms, speech and swallowing muscles as well as the leg muscles. Recessive and x-linked forms skip generations, which means the disorder may pass down silently for generations and then suddenly appear. Furthermore, the wide variability in age of onset, progression rate and severity may make it difficult to diagnose. Therefore, HSP may go undiagnosed for along period of time, or an individual may pass away prior to symptom onset.

The main symptom of HSP is progressive difficulty walking due to increasingly weak spastic leg muscles. Although onset usually occurs between the second and fourth decades of life, it can start at any age from early childhood through very late adulthood. Initial symptoms include difficulty with balance and stubbing the toe or stumbling. Changes often begin gradually enough it first becomes apparent to other individuals. Walking aides, such as canes, walkers and, eventually, wheelchairs, often become necessary, although some may never require assistive devices. There can be a great deal of variability in severity of symptoms and age of onset, even within the same family.

Other symptoms that commonly occur:

-increased urinary urgency and frequency;
-difficulty with balance;
-hyperactive reflexes
-clonus
-Babinski's sign
-diminished vibration sensation in feet;
-muscle spasms
-muscle pain; and
-pes cavus (high arched foot).

The majority of individuals with HSP experience these symptoms. This is referred to as "uncomplicated HSP" because it does not involve the life-threatening issues found in "complicated HSP". This rare form involves additional symptoms such as peripheral neuropathy, epilepsy, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, deafness, or problems with speech, swallowing or breathing. It is important to note that these related conditions may have nothing to with the HSP, but may be pre-existing conditions.

The rate of progression for HSP is non-linear which means it does not progress the same for all individuals. There is no way to predict the rate at which it will progress or the severity of symptoms. Generally, once symptoms begin, progression continues slowly throughout life. For some childhood onset forms, however, symptoms may become apparent, gradually worsen, and eventually stabilize after adolescence. HSP rarely results in complete loss of lower limb mobility.

A careful clinical examination by a neurologist usually uncovers HSP through a process of exclusion of other disorders. Disorders that can be ruled out with clinical testing are ALS, tropical spastic paraparesis (TSP), vitamin deficiencies (B12 or E), thoracic spine herniated disks, and spinal cord tumors. HSP is most commonly hereditary; therefore, examining family history is important in diagnosing HSP. However, as mentioned, many individuals with all the signs and symptoms of HSP do not have a family history. Genetic testing for the most common form of dominant HSP (spastin) and for the most common form of childhood onset dominant HSP (atlastin) is available.

Life expectancy is similar to that of normal individuals. However, complications arising from falls or immobility may inadvertently shorten an individual's life. There is currently no clinically proven treatment plan for HSP. Treatment is focused on symptom relief, physical therapy to help maintain flexibility, strength, and range of motion, assistive devices and communications aids, and supportive therapy.

HSP Treatment
Although treatment programs vary, treatment includes: physical therapy, occupational therapy, speech therapy, drug therapy, assistive devices, orthotics, supportive counseling and dietary recommendations. Your neurologist and other healthcare professionals will help develop an individualized treatment program.

In regards to dietary recommendations, there are no known studies indicating that any specific vitamin or nutrient can effectively treat HSP. However, studies have indicated that some agents may be of benefit in related neurological conditions, such as ALS. These nutrients include Coenzyme Q10 (antioxidant), creatine monohydrate (amino acid), alpha lipoic acid (antioxidant) and vitamin E (antioxidant). Other anti-oxidants that may be of benefit include vitamin C, selenium and beta-carotene.

Furthermore, it is generally believed that eating a healthy, well-balanced diet is important to overall health. Individuals should always consult with their physician or a registered dietitian prior to taking any vitamins or dietary supplements.

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