What Is Hereditary Spastic Paraplegia?
Hereditary spastic paraplegia (HSP), also known as familial spastic paraplegia, is a neurodegenerative degenerative disease. The pathological changes are mainly axonal degeneration and / or demyelination of the bilateral corticospinal tract in the spinal cord, with the thoracic segment being the heaviest. The clinical manifestations were increased muscle tension in both lower extremities, hyperactive tendon reflexes, positive pathological reflexes, and scissors gait.
Basic Information
- nickname
- Familial spastic paraplegia
- English name
- Hereditary Spastic Paraplegia
- English alias
- Visiting department
- Neurology
- Multiple groups
- Children and adolescents
- Common locations
- spinal cord
- Common causes
- Heredity
- Common symptoms
- Spastic muscle weakness in both lower limbs, increased muscle tone, hypertenoid reflexes, knee and ankle clonus, with a scissors-like gait; accompanied by optic nerve atrophy, retinal pigment degeneration, etc.
Causes of hereditary spastic paraplegia
- Hereditary spastic paraplegia is a relatively rare familial hereditary disease. The most common is autosomal dominant inheritance, as well as autosomal recessive inheritance and X-linked recessive inheritance. It is characterized by chronic progressive weakness and chronic spastic lower limb paralysis. The pathogenesis remains unclear.
Clinical manifestations of hereditary spastic paraplegia
- The age of onset of HSP is more common in childhood or adolescence, but it can also be seen in other ages. Men are slightly more than women, and often have a positive genetic family history. The clinical manifestations are slowly progressing spastic muscle weakness of the lower limbs, increased muscle tone, hyperactive tendon reflexes, knee and ankle clonus, positive pathological signs, and scissors-like gait. May be accompanied by optic nerve atrophy, retinal pigment degeneration, extrapyramidal symptoms, cerebellar ataxia, sensory disorders, dementia, mental retardation, deafness, muscular atrophy, autonomic dysfunction, etc., and may also have arcuate foot deformities.
Hereditary spastic paraplegia
- Evoked potential
- Lower extremity somatosensory evoked potentials (SEPs) showed a slowing of the posterior nerve fiber conduction velocity. Cortical motor evoked potentials showed a significant decrease in the velocity of conduction of the corticospinal tract. In contrast, upper limb evoked potentials were normal, or showed only a slight decrease in conduction velocity.
- 2. Electromyography
- Denervation changes can be found, but peripheral nerve conduction velocity is normal.
- 3.MRI examination
- Skull MRI is generally normal, but in some cases, corpus callosum dysplasia may occur, and brain and cerebellum atrophy. Cervical or thoracic spinal MRI can show spinal cord atrophy.
Diagnosis of hereditary spastic paraplegia
- Based on family history, childhood (a few 20-30 years old) onset, slow progressive lower extremity spastic paraplegia, scissors gait, with optic nerve atrophy, extrapyramidal symptoms, ataxia, muscle atrophy, dementia and skin lesions diagnosis.
Differential diagnosis of hereditary spastic paraplegia
- Cervical spondylosis often involves upper limb involvement and nerve root pain. X-rays of the cervical spine and MRI show cervical hyperplasia. Multiple sclerosis has a history of remission and recurrence, optic neuritis, and MRI showed changes in demyelination of the brain. Amyotrophic lateral sclerosis has muscle atrophy of the upper limbs, tremor of the muscle bundle, and huge potential changes in the electromyogram. Arnold-Chiari malformations have ataxia, and skull MRI can confirm the diagnosis. Spinal cerebellar ataxia is mainly manifested by ataxia, as well as eye movement disorders and dysarthria. The disease must be distinguished from Arnold-Chiari deformity, cervical spondylosis, multiple sclerosis, cerebral palsy, and genetic motor neuron disease.
Hereditary spastic paraplegia treatment
- Currently, no specific treatment can prevent, delay, and reverse progressive sexual disability in patients with HSP. The goal of medication is to reduce disability and prevent complications. Strength training can improve the strength of undamaged muscles, compensate the muscle strength of the weak muscles, and at the same time slow down muscle atrophy, especially the calf muscles, and relieve back pain. Do stretching exercises to reduce complications such as tendinitis, bursitis, and cramps. Aerobic training can improve cardiovascular fitness, reduce fatigue, and increase endurance. Walking, cycling, swimming, aerobics, etc. are good choices.
Prognosis of hereditary spastic paraplegia
- Hereditary spastic paraplegia is a genetic disease and there is no specific cure for it, so attention should be focused on prevention. Patients with this disease try not to get married or to have children after marriage. Physical exercise should be strengthened during the course of the disease to prevent disability due to premature bed rest. The disease develops slowly, as long as you pay attention to care, it can sustain decades of life.