Hereditary spastic paraplegia (HSP) is not a single disease entity;
it is a group of clinically and genetically diverse disorders that share
a primary feature, which is the causation of progressive and generally
severe lower extremity weakness and spasticity. (See Etiology,
Presentation, and Workup.)
Strümpell first described hereditary forms of spastic paraplegia (see the image below) in 1883, with Lorrain later providing more extensive detail. HSP is also called familial spastic paraparesis and Strümpell-Lorrain syndrome. (See Presentation.)
Photograph
of a 16-year-old girl with complicated hereditary spastic paraplegia.
She has a spastic gait disturbance, mental retardation, and
extrapyramidal symptoms. Note the dysmorphic features. Numerous
clinical reports have documented that HSP syndromes are heterogeneous.
Syndromes are classified as uncomplicated, or pure, when only spinal
involvement occurs, and they are classified as complicated when they are
associated with neurologic abnormalities, such as ataxia, mental
retardation, dementia, extrapyramidal dysfunctions, visual or hearing
dysfunctions,[1] adrenal
insufficiency, and ichthyosis. Clinical distinctions between pure and
complicated forms of HSP have some utility. (See Prognosis,
Presentation, Workup, Treatment, and Medication.)
The most useful classifications now are based on the mode of inheritance and genetic linkage. HSP may also be classified as autosomal dominant, autosomal recessive, or X-linked, and each type has several subtypes, which are based on the location of the gene. The mode of inheritance cannot be used to predict the severity of the disorder, however, because symptoms can vary greatly within each type. (See Etiology.)
In the past, HSP was also classified as type I or type II, based on the patient's age at the onset of symptoms and on the amount of spasticity versus weakness. Because both types can appear in the same family, this method of classification is no longer in general use. (The age of onset often has no clear relation to the HSP genotype.)[2]
To date, the locations of several genes associated with HSP have been identified. Eighteen types of dominantly inherited pure or complicated HSP are known, along with 17 types of recessively inherited HSP and 3 types of X-linked HSP.[3]
Strümpell first described hereditary forms of spastic paraplegia (see the image below) in 1883, with Lorrain later providing more extensive detail. HSP is also called familial spastic paraparesis and Strümpell-Lorrain syndrome. (See Presentation.)
Photograph
of a 16-year-old girl with complicated hereditary spastic paraplegia.
She has a spastic gait disturbance, mental retardation, and
extrapyramidal symptoms. Note the dysmorphic features. Numerous
clinical reports have documented that HSP syndromes are heterogeneous.
Syndromes are classified as uncomplicated, or pure, when only spinal
involvement occurs, and they are classified as complicated when they are
associated with neurologic abnormalities, such as ataxia, mental
retardation, dementia, extrapyramidal dysfunctions, visual or hearing
dysfunctions,[1] adrenal
insufficiency, and ichthyosis. Clinical distinctions between pure and
complicated forms of HSP have some utility. (See Prognosis,
Presentation, Workup, Treatment, and Medication.) The most useful classifications now are based on the mode of inheritance and genetic linkage. HSP may also be classified as autosomal dominant, autosomal recessive, or X-linked, and each type has several subtypes, which are based on the location of the gene. The mode of inheritance cannot be used to predict the severity of the disorder, however, because symptoms can vary greatly within each type. (See Etiology.)
In the past, HSP was also classified as type I or type II, based on the patient's age at the onset of symptoms and on the amount of spasticity versus weakness. Because both types can appear in the same family, this method of classification is no longer in general use. (The age of onset often has no clear relation to the HSP genotype.)[2]
To date, the locations of several genes associated with HSP have been identified. Eighteen types of dominantly inherited pure or complicated HSP are known, along with 17 types of recessively inherited HSP and 3 types of X-linked HSP.[3]
Complications
Patients with HSP may have several possible complications, including the following (see Prognosis):- Gastrocnemius-soleus contracture
- Cold feet
- Fatigue
- Back and knee pain
- Stress and depression
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