Hereditary spastic paraplegia

Hereditary spastic paraplegia: Description, Causes and Risk Factors: Hereditary spastic paraplegiaHereditary spastic paraplegia (HSP) is not a single disease entity but rather a group of clinically and genetically diverse disorders that share the primary feature of progressive, generally severe, lower extremity spasticity. Hereditary spastic paraplegia is classified as "uncomplicated" (symptoms confined to lower extremity weakness, bladder disturbance, and to a lesser extent impaired position sense in the legs); and "complicated" when additional neurologic deficits are present. The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. Some studies in which similar criteria and methods were employed found the prevalence of HSP/100 000 to be 2.7 in Molise Italy, 4.3 in Valle d'Aosta Italy, and 2.0 in Portugal. At present, mutations in four genes; L1CAM, PLP, paraplegin, and spastin have been identified as playing a part in the development of an HSP phenotype, with the identity of the genes at the other seven loci still unknown. The recent discovery of the spastin and paraplegin genes opens a new era of exciting opportunities in which we can begin to investigate the physiology of the motor system and the degenerative process it undergoes Autosomal dominant inheritance is the commonest mode of inheritance in HSP and has been linked to loci on chromosome 2p (SPG4), chromosome 14q (SPG3), chromosome 15q (SPG6), chromosome 8q (SPG8), chromosome10q (SPG9), and chromosome 12q (SPG10). Although X-linked HSP is rare, its molecular genetic basis is relatively well understood. There are two different loci identified for X-linked HSP, SPG1 and SPG2. Families with complicated HSP have been linked to both SPG1 and SPG2, whereas the pure phenotype has only been linked to SPG2. The outlook for people with HSP varies. Some people are very disabled and need a wheelchair, while others only have a mild disability and do not need any walking aid. Generally, many people with HSP lead relatively independent and active lives, even if they do need a wheelchair. HSP does not usually affect life expectancy. Symptoms: At first there may just be mild stiffness and slight difficulty with walking, which slowly worsens to uncontrollable shaking of the legs when walking, poor balance and unsteadiness.Many people with HSP develop foot drop, where they have difficulty lifting their toes and end up dragging them when they walk. They may keep tripping, especially if walking on uneven ground.Some may eventually need a walking aid or wheelchair, although not everyone will.Other symptoms in HSP are fatigue and bladder problems, such as incontinence or a sense of urgency. Diagnosis: The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Several genetic mutations have been identified which underlie some of the forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. In appropriate circumstances, and with adequate counseling, molecular genetic testing canbe performed and prevent extensive investigations. Testing is available for SPG4 (spastin),SPG3A (atlastin) and SPG6 (NIPA1) for familieswith pure AD-HSP. Other testing (e.g. SPG7 andSPG17) may be available on a research basis. Testing for mutations in spastin (SPG4) shouldalso be considered in cases of sporadic progressive spastic paraplegia where no cause has beenidentified, as mutations have been detected in<10% of apparently sporadic cases of pure HSP. Treatment: HSP cannot be prevented, slowed or reversed, but treatments can relieve some of the symptoms and help the person manage day-to-day activities. For example:
  • Muscle relaxants such as baclofen and tizanidine and botulinum injections (Botox) can help relieve spasticity.
  • Regular physiotherapy is important for muscle strength and range of movement.
  • A lower leg brace (ankle-foot orthosis) can help foot drop.
  • Surgery may occasionally be needed to release tendons or shortened muscles.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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