paraplegia$57890$ - definizione. Che cos'è paraplegia$57890$
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Cosa (chi) è paraplegia$57890$ - definizione

GENETICALLY AND CLINICALLY HETEROGENEOUS GROUP OF NEURODEGENERATIVE DISORDERS CHARACTERIZED BY PROGRESSIVE SPASTICITY AND HYPERREFLEXIA OF THE LOWER LIMBS
Familial spastic paraparesis; Strumpell-lorrain disease; Spastic ataxia; Spastic paraplegia, hereditary; Spastic paraplegia; Strümpell-Lorrain disease; Strumpell-Lorrain disease; Struempell-Lorrain disease; Hereditary Spastic Paraplegia; Spastic paraplegia type 1, X-linked; Spastic paraplegia type 2, X-linked; Spastic paraplegia type 3, dominant; Spastic paraplegia type 4, dominant; Spastic paraplegia type 6, dominant; Spastic paraplegia, familial; Silver syndrome; Strumpell disease; Lison syndrome; Troyer syndrome; Kjellin syndrome; Spastic paraplegia type 5A, recessive; Spastic paraplegia type 5B, recessive; Familial spastic paraplegia; Familial spastic paralysis; Strumpell–Lorrain disease; SPG5B; SPG5B (gene)
  • Overview of HSP pathogenesis on cellular level. Identified affected genes in each pathway are depicted.

Hereditary spastic paraplegia         
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs.
paraplegic         
IMPAIRMENT IN MOTOR OR SENSORY FUNCTION OF THE LOWER EXTREMITIES
Paraplegic; Paraplegics; Paraparesis; Paraplegy; Parapalegic; Paraplejic
(paraplegics)
A paraplegic is someone who cannot move the lower half of their body, for example because of an injury to their spine.
N-COUNT
Paraplegic is also an adjective.
A passenger was injured so badly he will be paraplegic for the rest of his life.
ADJ
Spastic paraplegia 31         
30 YEARS). IN SOME CASES, IT CAN PRESENT AS A COMPLEX PHENOTYPE WITH ADDITIONAL ASSOCIATED MANIFESTATIONS INCLUDING PERIPHERAL NEUROPATHY, BULBAR PALSY (WITH DYSARTHRIA AND DYSPHAGIA), DISTAL AMYOTROPHY, AND IMPAIRED DISTAL VIBRATION SENSE.
Spastic paraplegia 31 is a rare type of hereditary spastic paraplegia which is characterized by sensation anomalies of the lower extremities.

Wikipedia

Hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.

HSP is caused by defects in transport of proteins, structural proteins, cell-maintaining proteins, lipids, and other substances through the cell. Long nerve fibers (axons) are affected because long distances make nerve cells particularly sensitive to defects in these mentioned mechanisms.

The disease was first described in 1880 by the German neurologist Adolph Strümpell. It was described more extensively in 1888 by Maurice Lorrain, a French physician. Due to their contribution in describing the disease, it is still called Strümpell-Lorrain disease in French-speaking countries. The term hereditary spastic paraplegia was coined by Anita Harding in 1983.