Spastic paraplegia

Introduction Hereditary spastic paraplegia is a genetic disease with no specific treatments, so the focus should be on prevention. Avoid close marriage, do a good job before marriage, patients with this disease should not marry or do not give birth after marriage, should strengthen physical exercise during the course of the disease, prevent premature bed and cause disability, the disease develops slowly, as long as care, can be maintained for decades life.

Cause

Genetic forms Domestic and foreign studies have reported that the genetic form of HSP can be autosomal dominant (AD) and autosomal recessive (AR), rare X-linked recessive inheritance (XR), sporadic cases are not uncommon. Domestic scholars summarized the genetic characteristics of HSP (a total of 117 families, 435 patients) reported in the domestic literature, and found that autosomal dominant, autosomal recessive, and X-linked recessive inheritance were 41, 13, and 2 families, respectively. It accounts for 35.04%, 11.11%, and 1.71% of HSP, which is basically consistent with the genetic form reported abroad.

an examination

Related inspection

EMG brain MRI examination brain evoked potential

The age of onset of HSP is more common in childhood or adolescence, but it can also be seen in other age groups. Men are slightly more than women. There is often a positive family history of inheritance. The clinical manifestations are slow progression of lower extremity spasm muscle weakness, increased muscle tone, active sputum reflexes, knee and hernia, positive pathology, and scissor-like gait. May be associated with optic atrophy, retinitis pigmentosa, extrapyramidal symptoms, cerebellar ataxia, sensory disturbances, dementia, mental retardation, deafness, muscle atrophy, autonomic dysfunction. There may also be arched foot deformities. Some HSP families have a phenomenon of genetic early pregnancy.

Differential diagnosis

Cervical spondylosis often has upper limb involvement, nerve root pain, cervical X-ray film and MRI showing cervical vertebrae hyperplasia. Multiple sclerosis has a history of remission and recurrence, optic neuritis, and MRI shows demyelination in the brain. Amyotrophic lateral sclerosis has upper limb muscle atrophy, fasciculation tremor, and electromyogram shows great potential changes. The Arnold-chiari malformation has an ataxia manifestation, and the head MRI can be diagnosed. Spinal cerebellar ataxia is characterized by ataxia, eye movement disorders, and dysarthria.

The disease must be differentiated from Arnold-Chiari malformation, multiple sclerosis, cerebral palsy, hereditary motor neuron disease, multiple system atrophy, cerebellar ataxia, subacute combined degeneration, spinal cord compression.

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