Accumulation of genotypephenotype correlation is important for better understanding of spg4linked hereditary spastic paraplegia. Dementia in spg4 hereditary spastic paraplegia neurology. Pdf clinical characteristics of taiwanese patients with. An apparently sporadic case of adultonset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. History of present illness date of onset mode of onset sudden gradual 3. It may also include paralysis of the bladder and bowel. Clinical features and management of hereditary spastic paraplegia. Paraplegia can involve complete or partial paralysis of the legs andor the trunk. 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. 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. Eric pinagarza md, in fenichels clinical pediatric neurology seventh.
Acute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patients back and abdomen. 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, paralysis of the legs and lower part of the body. There is a strong relationship between functional status and whether the injury is complete or not complete.
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. Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. Objectives at least three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia adpsp have been described. Disease severity was assessed by using the spastic paraplegia rating scale sprs 18 and the disability score. Peripheral neuropathy is a general term for any disorder affecting the peripheral nerves. 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. Acute aortic dissection presenting as painless paraplegia. Paraplegia is an impairment in motor orsensory function of the lower extremities. Spinal cord injury paraplegia better health channel. 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. 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. Examination generally reveals a flaccid paraplegia, a distended bladder, and. Both paraplegia and quadriplegia are conditions which result from injury or trauma to the spinal cord. 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.
When examining a patient who presents with paraplegia, a careful neurological examination is critical for planning additional diagnostic workup and care. Evaluation of the patient in these cases, in addition to the clinical examination, requires measurement of arterial blood gases. A family with spg4hsp known to have a deletion of exon 17 in the spastin gene spg4delex17 was. Traumatic paraplegia is caused by a lesion of the spinal cord sci which occurs after a trauma, e. 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. Neurologic examination and functional assessment after spinal. However, painless paraplegia is exceedingly rare and limited to a few case reports in the literature. A careful neurological assessment and complete electrophysiological.
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. 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. Paraplegia after thoracoabdominal aortic aneurysm repair. 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. Involuntary flexion of the lower limbs is seen in a variety of conditions. Ala510val mutation in the spastic paraplegia type 7 spg7 gene has been identified as a common mutation causing hereditary spastic paraparesis hsp 1, 2. Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential diagnoses. Muscle testing techniques of manual examination 5, wb saunders, philadelphia. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features, possible abnormalities on mri, and family. 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. Spastic paraplegia type 7 associated with a broad clinical. The phenotype can be broad encompassing upper limb hyperreflexia and ophthalmoplegia.
Manual evacuation may be necessary when there is faecal impaction. Motor recovery of the upper extremities in traumatic quadriplegia. Clinical examination paraplegia linkedin slideshare. In 22 families with the pure form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Hereditary spastic paraplegia clinical presentation. Mar 10, 2009 the neurological examination terminologies and definitions of the status of spinal cord injured sci patients are of great importance to establish scales and provide standard nomenclatures. There has only been one postmortem examination described. 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. Spg7 is reported as an autosomal recessive disease. Paraplegia is the initial manifestation of neuroblastoma extending into the epidural space from a paravertebral origin. The convexity of a teaspoon is used in order to determine the segmental level of skin moisture in patients with spinal cord lesions. A novel cpt1c variant causes pure hereditary spastic. Clinical spectrum of hereditary spastic paraplegia in children.
Paraplegia often involves loss of sensation of pain, temperature, vibration, and position as well as loss of motion. It is like a system of telephone wires which conduct messages from the brain, through the nerves, to all parts of the body. Eric pinagarza md, in fenichels clinical pediatric neurology seventh edition, 20. The spinal cord runs through the centre of the bony spine. Acute flaccid paraplegia is a clinical occurrence with extreme. In this study the clinical, genetic, neurophysiological, and mri characteristics of adpsp were investigated. 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. Acute flaccid paraplegia is a clinical occurrence with extreme importance, due to the dramatic presentation, the severity of the underlying disorder, and. 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. 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.
Because most affected children are infants, the first symptom is usually refusal to stand or walk. 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. 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. 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. Methods sixty three at risk members from five families were clinically evaluated. Clinical examination of a case of paraplegia contents introduction history elicitation symptoms of present history symptoms of motor. Two forms of dominant hereditary spastic paraplegia were identified. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genetically heterogeneous. 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. Paraplegia may be caused by injury to or disease of the lower. Paraplegia definition of paraplegia by medical dictionary.
Significant overlap exists between hereditary spastic paraplegia and other neurodegenerative disorders both from a clinical and genetic perspective. Clinical approach to paraplegia linkedin slideshare. Physical medicine and rehabilitation clinics of north america. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk. Paraplegia due to spinal cord ischemia and infarction as a presenting manifestation of aortic dissection has been found in 2 to 5 % of patients. Clinical characteristics of taiwanese patients with. Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis hsp linked to the spg4 locus. Clinical trials are research studies conducted in an effort to improve overall patient health and care. Paraplegia is an impairment in motor orsensory function of the lower extremities 2. In spastic paraplegia there is constant tension in the affected muscles often leading to fixed deformities. Pdf acute flaccid paraplegia is a clinical occurrence with extreme. Paraplegia after taaa repair is a devastating complication. Identifying distinct spinal cord syndromes and determining the likely location of the underlying pathological process will guide subsequent imaging and electrodiagnostic studies.
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