Because the medical literature on hereditary spastic paraplegia hsp is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of hsp. Paraplegia caused by damage to the spinal cord is also associated with paralysis of the lower part of the trunk and loss of normal voluntary bladder and bowel control. It is like a system of telephone wires which conduct messages from the brain, through the nerves, to all parts of the body. Clinical trials are research studies conducted in an effort to improve overall patient health and care. When examining a patient who presents with paraplegia, a careful neurological examination is critical for planning additional diagnostic workup and care. Paraplegia after taaa repair is a devastating complication. Eric pinagarza md, in fenichels clinical pediatric neurology seventh.
Ala510val mutation in the spastic paraplegia type 7 spg7 gene has been identified as a common mutation causing hereditary spastic paraparesis hsp 1, 2. Since peripheral neuropathy can be caused by numerous factors, an investigation into the cause of the neuropathy should be undertaken as soon as the diagnosis of neuropathy is made. Identifying distinct spinal cord syndromes and determining the likely location of the underlying pathological process will guide subsequent imaging and electrodiagnostic studies. Clinical examination of a case of paraplegia contents introduction history elicitation symptoms of present history symptoms of motor. Acute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patients back and abdomen. Paraplegia rg journal impact rankings 2018 and 2019. Eric pinagarza md, in fenichels clinical pediatric neurology seventh edition, 20. Involuntary flexion of the lower limbs is seen in a variety of conditions. Paraplegia is the initial manifestation of neuroblastoma extending into the epidural space from a paravertebral origin. Paraplegia definition of paraplegia by medical dictionary. Spg7 is reported as an autosomal recessive disease. Both paraplegia and quadriplegia are conditions which result from injury or trauma to the spinal cord.
Muscle testing techniques of manual examination 5, wb saunders, philadelphia. Two forms of dominant hereditary spastic paraplegia were identified. Hereditary spastic paraplegia clinical presentation. Clinical characteristics of taiwanese patients with. Spastic paraplegia type 5 spg5 is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the. Pdf acute flaccid paraplegia is a clinical occurrence with extreme. Motor recovery of the upper extremities in traumatic quadriplegia. Paraplegia is an impairment in motor orsensory function of the lower extremities 2. Acute flaccid paraplegia is a clinical occurrence with extreme importance, due to the dramatic presentation, the severity of the underlying disorder, and the generally poor prognosis that follows. The severity and location of the damage to the nervous system determines the extent of the.
Neurologic examination and functional assessment after spinal. Hereditary spastic paraplegia hsp also known as familial spastic paraparesis and strumpelllorrain syndrome is not a single disease entity but rather a group of clinically and genetically diverse disorders that share the primary feature of progressive, generally severe, lower extremity spasticity. In 22 families with the pure form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genetically heterogeneous. Paraplegia often involves loss of sensation of pain, temperature, vibration, and position as well as loss of motion. Paraplegia and spinal cord syndromes clinical gate. Objectives to perform a clinical and genetic study of families with adhsp and to perform the functional analysis of the founder mutation discovered in the spg4 gene.
A careful neurological assessment and complete electrophysiological. Hereditary spastic paraplegias hsps are neurodegenerative disorders characterized by progressive spasticity and weakness of the lower extremities, resulting from dying back axonopathy of the corticospinal tract. Paraplegia is a condition in which a person develops weakness of both legs due to problems either in the spinal cord or the nerves supplying the muscles of lower limbs or due to involvement of the muscles directly. Jan 22, 2019 paraplegia is a medical condition where a person experiences loss of movement andor loss of feeling in the body. Accumulation of genotypephenotype correlation is important for better understanding of spg4linked hereditary spastic paraplegia. Clinical and radiographic evaluation of the shoulders of tetraplegic and paraplegic patients who attend rehabilitation program. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential diagnoses. Jan 14, 2019 hereditary spastic paraplegia hsp is not a single disease entity. Professor of medicine 1 clinical evaluation of paraplegia anatomy of spinal cord. Significant overlap exists between hereditary spastic paraplegia and other neurodegenerative disorders both from a clinical and genetic perspective. The temporary interruption of distal aortic perfusion and sacrifice of spinal segmental arteries during taaa repair are central events in the pathogenesis of spinal cord ischemia and paraplegia. It may also include paralysis of the bladder and bowel. Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis hsp linked to the spg4 locus.
The american academy of neurology recommends that metabolic and genetic testing should be considered in children with spastic paraplegia if their clinical record or neuroimaging findings are insufficient for establishing a specific diagnosis, or if there are other additional atypical features in their history or clinical examination. The spinal cord runs through the centre of the bony spine. Traumatic paraplegia is caused by a lesion of the spinal cord sci which occurs after a trauma, e. In this study the clinical, genetic, neurophysiological, and mri characteristics of adpsp were investigated. It may be due, for instance, to changes in the muscles themselves, as in the myopathic type of senile paraplegia,1 or to the unopposed action of the flexor muscles of the hip following injury to the cauda equina. A novel cpt1c variant causes pure hereditary spastic. However, painless paraplegia is exceedingly rare and limited to a few case reports in the literature. Clinical examination paraplegia linkedin slideshare. There is a disagreement between the classical neurological terminology and the definitions of complete and incomplete paraplegia that have been proposed in traumatic spinal cord injured patients. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk.
Internal medicine, neurology, clinical approach, paraplegia, aswini. There has only been one postmortem examination described. Peripheral neuropathy is a general term for any disorder affecting the peripheral nerves. Slowed vertical saccades as a hallmark of hereditary spastic. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. The phenotype can be broad encompassing upper limb hyperreflexia and ophthalmoplegia. Disease severity was assessed by using the spastic paraplegia rating scale sprs 18 and the disability score. Cranial border of atlas lower border of l1 45 cm in adult male 42 cm in adult female anatomy of spinal cord corresponding spinal column 70cm total 31 segments 2. Paraplegia may be caused by injury to or disease of the lower. The convexity of a teaspoon is used in order to determine the segmental level of skin moisture in patients with spinal cord lesions.
Paraplegia is an impairment in motor orsensory function of the lower extremities. H ereditary spastic paraplegia hsp is defined as a neurological disorder characterised by progressive symmetrical pyramidal tract dysfunction with onset in the lower limbs resulting in weakness, mainly of the lower extremities. Acute aortic dissection presenting as painless paraplegia. Acute flaccid paraplegia is a clinical occurrence with extreme importance, due to the dramatic presentation, the severity of the underlying disorder, and. Because most affected children are infants, the first symptom is usually refusal to stand or walk. Clinical approach to paraplegia linkedin slideshare. There is a strong relationship between functional status and whether the injury is complete or not complete. History of present illness date of onset mode of onset sudden gradual 3. In spastic paraplegia there is constant tension in the affected muscles often leading to fixed deformities. Physical medicine and rehabilitation clinics of north america. Jan 31, 2012 hereditary spastic paraplegia hsp is a heterogeneous group of neurodegenerative disorders clinically characterized by progressive weakness, spasticity and hyperreflexia of the lower limbs and. Pdf clinical characteristics of taiwanese patients with.
Paraplegia can involve complete or partial paralysis of the legs andor the trunk. Paraplegia is uncommon but important thorough and systematic approach is neededfor making an accurate localization and arriving at an etiological diagnosis at the end of a neurological examination ask oneself the following questions 2. Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. The most common causes of sci in the world are traffic accidents, gunshot injuries, knife injuries, falls and sports injuries. Spinal cord injury paraplegia better health channel. Examination generally reveals a flaccid paraplegia, a distended bladder, and. A family with spg4hsp known to have a deletion of exon 17 in the spastin gene spg4delex17 was. Dementia in spg4 hereditary spastic paraplegia neurology. Each trial involves running supervised tests to determine the effectiveness and safety of new drugs, procedures andor devices with the aim of answering scientific questions about a disease or condition. Spastic paraplegia type 7 associated with a broad clinical. Clinical spectrum of hereditary spastic paraplegia in children. Paraplegia, paralysis of the legs and lower part of the body.
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