Spastic Conditions, Cerebral Palsy, Spastic Paraparesis TOPIC TEXT HIGHLIGHTS Cerebral Palsy Cerebral (brain) and palsy (paralysis). Cerebral palsy (CP) can be caused by any abnormality of the developing brain. This includes genetic/developmental disorders, fetal damage (complications of pregnancy), birth problems (perinatal asphyxia), and even early postnatal brain damage within the first two years of life. Fetal and postnatal, in the first 2 years of life. Demographics The prevalence is approximately 500k in the U.S. The incidence (new cases) is about 5K/year in the U.S. and 1200-1500 previously normal children develop CP in the preschool years. Most patients have spasticity ("upper motor neuron" disease). 500,000 + in U.S. Risk Factors, (prenatal/perinatal) Cerebral palsy is associated with many precipitating factors, including: premature birth, low birth weight, immunoincompatibility, prolonged labor, premature placental separation, and intrauterine infections. Many of these factors cause CP through a mechanism of oxygen deprivation to the fetal/immature brain. Cerebral anoxia Risk Factors, (postnatal) Brain injury and cerebral infections (encephalitis) can lead to CP in the first two years of life. Brain injury can be nonaccidental (child abuse, neglect) or accidental. Trauma, Child Abuse, Encephalitis Familial Spastic Paraparesis Familial Spastic Paraparesis (FSP) is also known as Hereditary Spastic Paraparesis (HSP). It is a specific cause of paraparesis. IMPORTANT: spastic paraparesis is a clinical sign that has many potential causes. FSP/HSP is a diagnosis of exclusion - the other potential causes must be excluded through diagnostic evaluation. The patients have spasticity of the lower extremities. Spasticity and paralysis of both lower extremities Genetics Several different types of FSP/HSP have been described, including both autosomal dominant (AD) and autosomal recessive (AR) as well as X-linked ("sex-linked"). AD inheritance has been associated with markers on chromosomes 2, 14, and 15. AR inheritance has been associated with chromosome 8. (X-linked is associated with the X-chromosome.) X-linked, Auto dominant, Auto-recessive Differential Diagnosis Spastic paraparesis has many potential causes, including: MS (multiple sclerosis), spinal cord tumors (neoplasms), herniated intervertebral disks (usually thoracic), spinal vascular malformations (AVM's), infection (Tropical SP due to HTLV-1, primary lateral sclerosis, spinocerebellar ataxia, familial ALS (amyotrophic lateral sclerosis), vitamin deficiencies (B12 and E), and DOPA-responsive dystonias. Evaluation may include an MR to exclude tumor and disk herniation. MR of spine, to exclude structural lesion Nerve conduction studies (NCS) are normal in FSP/HSP. However, NCS are abnormal in Friedrich Ataxia and white-matter diseases (leukodystrophies). Nerve conduction is normal Clinical Presentation In the classic HSP, symptoms begin during the second to fourth decades (teens through 30's). Walking difficulties (gait disturbance), paresthesia (numbness/tingling) below the knee, and urinary dysfunction. Resting muscle tone is increased (the "spastic" component) but overall the muscles are weak. In addition to increased muscle tone, there is hyperreflexia, more marked in the legs, but abnormal in the arms as well. Cranial nerves (head, eyes, face) are NOT involved. Gait (walking) is spastic, with circumduction of the legs. The disease is slowly progressive, without the rapid exacerbations or remissions that may characterize MS. Children and young adults, spasticity, weakness, hyperreflexia Treatment Spasticity is treated with baclofen (Lioresal), diazepam (Valium), tizanadine, amantidine (Symmetrel) for fatigue, dantrolene, and oxybutinin (for bladder control). Pathology The classic, pure, autosomal dominant form shows a characteristic and classic degeneration of the distal portions of the axons. This is a length dependent axonal degeneration. The cell bodies of the neurons are relatively intact. Neurons intact, length dependent axonal damage This page is maintained by James G. Smirniotopoulos, M.D. Please Email comments or suggestions to: jsmirnio@usuhs.mil