Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the first known patient with human T lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) and myasthenia gravis (MG). A 50-year-old woman developed fluctuating muscle weakness with easy fatigability, transient bilateral blepharoptosis and double vision. Spastic paraparesis complicated these symptoms. Neurological assessments and specific laboratory findings revealed that the patient had definite HAM and MG. By inference from decreasing serum anti-HTLV-I antibody titers after thymectomy, the presence of antigenicity for HTLV-I in the thymic reticular cells, and a high incidence of various coexistent autoimmune diseases in HAM or MG, we suggested the possibility that these two diseases were associated with each other and with HTLV-I infection.
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PMID:Human T lymphotropic virus type I associated myelopathy and myasthenia gravis: a possible association? 803 42

A 54-year-old female presented with spontaneous thoracic spinal cord herniation manifesting as chronic progressive motor weakness in both legs. Spastic paraparesis (4/5) and pathological reflexes such as ankle clonus were noted. She also had mild bladder dysfunction but no bowel dysfunction. She had no sensory disturbance, including tactile and pinprick sense. Magnetic resonance (MR) imaging revealed that the atrophic spinal cord was displaced into the ventral extradural space at the T4-5 intervertebral level with markedly dilated dorsal subarachnoid space. Computed tomography obtained after myelography showed no evidence of intradural spinal arachnoid cyst. She underwent surgical repair of the spinal cord herniation via laminectomy, and spinal cord herniation through the ventral dural defect was confirmed. Postoperative MR imaging revealed improvement of the spinal cord herniation, but her symptoms were not improved. Spontaneous spinal cord herniation is a rare cause of chronic myelopathy, occurring in the upper and mid-thoracic levels, and the spinal cord is usually herniated into the ventral extradural space. Early differential diagnosis from intradural spinal arachnoid cysts is important for a satisfactory outcome.
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PMID:Spontaneous thoracic spinal cord herniation--case report. 1176 Mar 88

Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammatory, metabolic, infectious diseases) and the so-called 'hereditary spastic paraparesis'. Although poorly recognized by neurologists, spastic paraparesis is also one of the multiple presentations of inborn errors of metabolism (IEMs) in children and adults. Pyramidal signs are usually included in a diffuse neurological or systemic clinical picture; however, in some cases spastic paraparesis remains the only symptom for years. Since these metabolic causes are often treatable, it is essential to include them in the general diagnostic approach to spastic paraparesis. Here we review IEMs causing paraparesis in adults.
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PMID:Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach. 1795 90

The predominant clinical feature of patients with Hereditary Spastic Paraparesis (HSP) is gait disturbance owing to spasticity and weakness of the lower limbs; the spasticity in early-onset disease (infancy or childhood) often cannot be distinguished from mild form of spastic diplegia (SD). The aim of this study was to quantify the gait strategy in HSP and SD children, focusing on the differences between groups as concerns functional limitation during gait. 9 HSP and 16 SD children were evaluated using Gait Analysis; kinematic and kinetic parameters and EMG pattern during walking were identified and calculated to compare the two gait strategies. The results revealed that these two pathologies are characterised by different gait strategies. In particular we found that knee joint, in terms of kinematics and kinetics, and rectus femoris pattern represent discriminatory aspects in order to compare and differentiate gait patterns of HSP and SD children. The findings strongly support the issue that HSP and SD patients need individualised therapeutical program, either neurosurgical or pharmacological treatment, based on the quantification of gait deficiencies and in order to address the peculiarity of their motor limitations and to prevent the onset of compensatory strategies.
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PMID:3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: a kinematic, kinetic and EMG comparison. 2082 81

Portosystemic myelopathy is an unusual complication in patients with chronic liver disease with hepatic encephalopathy and portosystemic shunts. Here we present a case of 35-year-old male patient who presented to us with difficulty in walking and progressive stiffness in both lower limbs for two months. He had undergone splenectomy with distal splenorenal shunt 20 years back. On physical examination, he had spasticity in both lower limbs of grade 3, with minimal pyramidal weakness in lower limbs, brisk knee and ankle jerks. The plantar response was extensor. Upper limb examination was normal. On investigations, he had hypoalbuminemia, hyperbilirubinemia, increased plasma ammonia levels. Contrast enhanced CT scan abdomen revealed dilated splenorenal shunt and MRI spine showed no spinal cord compression. Electromyoneurogram was also normal. Spastic paraparesis due to portosystemic shunts was diagnosed. Liver transplantation can reverse the myelopathy only in earlier stages, hence early and accurate diagnosis is important.
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PMID:Portosystemic myelopathy: a rare neurological presentation of portosystemic shunts. 2575 60

The Hereditary Spastic Paraparesis (HSP) or Strumpell-Lorrain disease is a heterogeneous neurodegenerative disease of the spinal cord. It is genetically transmitted and characterized by a progressive muscle weakness, spasticity of the lower limbs and awkward gain. There is no specific pharmacological treatment. The pharmacological therapy decreases the muscle tone and prevents stiffening). Physiotherapy restrains the progression of muscle atrophy, delays contraction of the tendons and gives greater mobility to people affected by the disease. The aim of this study is to demonstrate the efficacy of the combined treatment Fkt and Btx-A in patients with HSP. Retrospective study was conducted recruiting ten patients with spasticity according to Asworth modified scale of at least 2 and with gait deficit. They received treatment for 5 years with incobotulinumtoxinA and physiokinesiotherapy for addressing spasticity in the lower limbs. We evaluated muscle tone with miometric measurement both at the first visit (T0), and at subsequent ones (T1 after 30 days, T2 after 3 months from the first infiltration, T3 after 4 months up to the date of the following infiltration, T4 after 5 months). Baropodometric examination has proven essential for the study of the distribution of loads in statics and dynamics. The data analysis regarding tone assessment through measurements with Myoton highlighted hypertonus reduction in all the three muscle groups examined at T1 and the maintenance of constant values up to 5 months after the first infiltration. It also showed an increase in the percentage of back foot loading in both feet up to T4 (new inoculation, p<0, 05%). Baropodometric examination in dynamics (in particular the speed of the step) showed a gradual increase in this parameter which reaches a peak at 5 months (p<0, 05%) and then declines again in conjunction with the next infiltration treatment. This study showed the benefit of combined treatment with Btx and Fkt. The use of a local muscle relaxant drug with a physical targeted exercise guarantees better mobility of the treated segments, reducing tendon retractions as much as possible, and guarantees an adequate postural alignment. Baropodometric examination highlights a more advantageous distribution load, quite essential for avoiding tendinitis due to overload. Our data observation in the 5 years study shows how the curve relative to the speed of step and the graphics related to the variations of muscle tone remain almost constant with detectable improvement.
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PMID:Combined Treatment Fkt-Botulinum Toxin Type A (Btx-A) in Patients with Strumpell-Lorrain Disease. 2664 60