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)

A 21 month old girl presented with a short history of frequent falls and a right sided foot drop. She went on to suffer recurrent episodes of distal weakness in her arms and legs with hyporeflexia. Electrophysiological studies were consistent with inflammatory demyelinating polyradiculoneuropathy (IDP) and treatment with corticosteroids appeared to lead to an improvement. However, the development of hypertension, evidence of tubulopathy, and hepatomegaly led to re-evaluation. A diagnosis of type I tyrosinaemia was made, based on increased urinary excretion of succinylacetone and decreased activity of fumarylacetoacetase in her cultured skin fibroblasts. A low tyrosine diet did not prevent life-threatening exacerbations of neuropathy but intravenous haemarginate appeared to aid her recovery from one exacerbation. An immediate improvement in strength was seen after starting treatment with 2-(2-nitro-4-trifluoro-methyl-benzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxy-phenylpyruvate dioxygenase. A liver transplant was performed but the patient died of immediate postoperative complications. Tyrosinaemia needs to be considered in a child with recurrent peripheral neuropathy because (i) the signs of liver disease and renal tubular dysfunction may be subtle; (ii) acute exacerbations may be life threatening; (iii) specific forms of treatment are available.
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PMID:Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. 841 15

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy recently reported to be associated with deletion of the peripheral myelin protein-22 (PMP-22) gene. We report a 39-year-old man with recurrent brachial plexopathy and foot drop complicated by uncontrolled diabetes mellitus (DM). Right foot drop occurred at 31 years of the age and the patient subsequently experienced difficulty in raising his right arm. Neurological examination revealed weakness of the right deltoid, biceps muscles and tibialis anterior muscles. Deep tendon reflexes were generally absent. Sensory nerve conduction velocities in th ulnar, median and sural nerves were prolonged. Serum glucose and HB Alc levels were elevated to 468 mg/dl and 12.5%, respectively. Initially, it was difficult to diagnose the neuropathy as HNPP because the patient had poorly controlled diabetes mellitus and was unaware of similar disease in his family. In addition, focal asymmetric motor neuropathy and good recovery can develop in diabetes mellitus, occasionally with recurrence. We were able to make a final diagnosis of HNPP by detecting deletion of the PMP-22 gene region. After the diagnosis was confirmed, we examined the patient's family and found that his father experienced recurrent episodes of bilateral foot drop. This case suggests that gene analysis is sometimes essential in the differential diagnosis of hereditary peripheral neuropathies.
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PMID:[A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus]. 879 9

Multifocal motor demyelinating neuropathy is an acquired immune-mediated neuropathy with distinctive clinical and electrophysiologic manifestations, and response to treatment. Clinically, it is characterized by slowly progressive asymmetrical predominantly distal weakness; unilateral wrist drop, grip weakness, and foot drop are the commonest initial manifestations. Electrophysiologic testing reveals multifocal motor demyelinating features. Persistent, localized, partial motor conduction block is the hallmark of the disorder. Results of sensory nerve conduction studies are generally normal, consistent with the lack of sensory symptoms and signs. Most patients show marked improvement in strength after treatment with intravenous human immunoglobulin or cyclophosphamide. The pathogenesis of the disease is not completely understood. An autoimmune pathogenesis is considered likely based on the beneficial response to immunomodulatory treatment and the presence of serum anti-GM1 ganglioside antibodies in affected patients.
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PMID:Multifocal motor neuropathy. 956 69

A genome scan with highly polymorphic markers has established linkage for tibial muscular dystrophy (TMD), a recently described late onset distal myopathy, to a novel myopathy locus on chromosome 2q31. The mode of inheritance in TMD is autosomal dominant and the typical symptom of ankle dorsiflexion weakness appears in the fourth to seventh decade. Weakness of lower leg muscles is slowly progressive eventually causing a moderate foot drop. Overall disability usually remains mild even in elderly patients and walking ability is preserved throughout the patient's lifetime. The main target of the disease, the tibial anterior muscle, shows progressive dystrophic changes with rimmed vacuoles at the early stages and complete replacement pathology at later stages of the disease. The linkage studies in four different TMD families revealed a common core haplotype with a set of markers on the chromosome 2q31 locus. This indicates one major ancient founder mutation for TMD in Finland. There is one superior candidate gene on the 2q31 locus, the gene encoding a giant protein titin, expressed in heart and skeletal muscle.
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PMID:Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. 967 87

Idiopathic hypereosinophilic syndrome (HES) is a disorder of the hematopoietic system, characterized by persistent elevation in the total eosinophil count (> 1500/microliter) for over 6 months, associated with organ damage and no detectable underlying cause. Treatment is centered on the reduction of total circulating eosinophils, which generally leads to remission of symptoms. We report a 68-year-old female patient with HES and peripheral neuropathy, presenting with cutaneous lesions, mental changes, cardiac and pulmonary symptoms, followed by right foot drop and eventually paraparesis, which caused an inability to ambulate. Weakness progressed to include the upper extremities despite adequate control of eosinophilia by steroids. Worsening of the peripheral neuropathy can occur despite lowering of the eosinophil levels.
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PMID:Hypereosinophilic syndrome: progression of peripheral neuropathy despite controlled eosinophil levels. 1042 56

A 17 year-old man, with periodic muscular weakness since the age of 6 years, is presented. The episodes of periodic paralysis were of variable duration, from 1 to 3 days, and were induced by physical exercise or by stress. Weakness was generalised, although predominant in anterior compartment of the legs, with foot drop. Interictal neurological examination was absolutely normal. He showed dysmorphic features, with micrognatia. Cardiac examination revealed continuous arrhythmia. Basal EKG and 24 hours EKG-Holter confirmed the existence of abundant ventricular extrasystoles, with episodes of ventricular tachycardia, without clinical manifestations. Echocardiogram was normal. Ictal and interictal ENG-EMG, and muscle and nerve biopsies were normal. Serum potassium levels during the episodes ranged from 3 to 3.6 mEq/l (N: 3.5-4.5 mEq/l), being normal interictally (4-5 mEq/l). Oral administration of potassium did not prevent the development of episodic weakness. He had no familial history of similar symptoms. This association of periodic paralysis, cardiac arrhythmia and dysmorphic features correspond to a rare entity named Andersen's syndrome.
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PMID:[Andersen syndrome. Description of a case] . 1114 5

We report two patients with Churg-Strauss syndrome (CSS) which occurred on the remission stage of bronchial asthma. Case 1 of a 64-year-old woman suffered from asthma in June, 1997, and got relief with treatment. In February, 1998, dysesthesia, pain and severe muscle weakness occurred in the extremities and erythematous rashes appeared on the extremities and back. She was transferred to our hospital on March 3. Peripheral blood eosinophilia was observed and a diagnosis of CSS was made. Eosinophilic tissue infiltration and vasculitis was found in the skin biopsy specimen. She was treated with prednisolone (60 mg/day) with moderate improvement. But the dysesthesia in the extremities, bilateral foot drop and the weakness of the left hand grasping power continued. Case 2 of a 62-year-old woman suffered from asthma in 1995, which improved by treatment. In March 1998, dysesthesia and pain in the lower extremities occurred and progressed. Erythematous rashes appeared on the feet and she was admitted to our hospital in May. Peripheral blood eosinophilia and eosinophilic tissue infiltration in the skin biopsy specimen were observed and a diagnosis of CSS was made. The treatment with prednisolone (60 mg/day) improved the pain but the dysesthesia continued. It is important to know the occurrence of CSS on the remission stage of bronchial asthma.
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PMID:[The occurrence of Churg-Strauss syndrome in two patients with remitted asthma]. 1128 Sep 2

Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbances, distal sensory impairment and by more or less typical changes in sural nerve biopsy. CMT type 1 is also characterized by reduced nerve conduction velocities. For these demyelinating subtypes, most frequently a 1.5 Mb tandem duplication in chromosome 17p11.2-12 comprising the gene for the peripheral myelin protein 22 (PMP22) is observed (CMT1A), but point mutations in PMP22 have also rarely been reported. X-linked, dominant CMTX1 disease is the second most common type of these hereditary motor and sensory neuropathies (HMSN). Mutations in the X chromosomal gene Connexin32 (Cx32) synonymous gap junction beta-1 (GJB1) are detectable in most X-linked CMT families. We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 gene in a Czech CMTX1 family. The mutation was not detectable in 50 healthy controls. The clinical phenotype in both the male proband and his mother was moderate with pronounced peroneal weakness and foot drop. Nerve conduction velocities were intermediately decreased (31-38 m/s) in both patients and slowing of central acoustic conduction (BAEP) was found in both the son and the mother whereas visual central conduction slowing (VEP) was detectable only in the son.
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PMID:Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. 1156 88

The combination of autosomal dominant, early onset Paget disease of bone (PDB) and muscular dystrophy is an unusual disorder. We recently mapped the disorder in a large family from central Illinois with PDB and proximal limb-girdle type of muscular dystrophy (LGMD), and in 3 additional families with hereditary inclusion body myopathy (HIBM), Paget disease of bone and frontotemporal dementia, to a unique locus on chromosome 9p21.1-q12. The present study describes an unrelated 10-member family with autosomal dominant PDB and a scapuloperoneal type of muscular dystrophy. Clinical, biochemical, and radiological evaluations were performed to delineate clinical features in this family. Progression of the muscular dystrophy begins with weakness in the distal muscles of the legs accompanied by foot drop. EMG and muscle biopsy are compatible with a primary dystrophy. Onset of Paget disease is early, at a mean age of 41 years, with initial distribution in the long bones and eventual infiltration of the spine and pelvis. Creatine phosphokinase (CPK) and alkaline phosphatase levels are elevated in affected individuals. Molecular analyses excluded all known loci for Paget disease of bone, scapuloperoneal muscular dystrophy (SPMD), fascioscapulohumeral muscular dystrophy (FSH), amyotrophic lateral sclerosis (ALS), Bethlem myopathy, two forms of autosomal dominant limb-girdle muscular dystrophy (LGMD), and the critical region for LGMD or HIBM/PDB on chromosome 9p21.1-q12, thus providing evidence for genetic heterogeneity among families with the unique combination of muscular dystrophy and Paget disease of bone.
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PMID:Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 1189 83

Periacetabular osteotomy has become the procedure of choice in many centers for the treatment of symptomatic hip dysplasia. Intraoperative real-time nerve monitoring has been advocated during acetabular fracture repair and complex total hip arthroplasties to prevent iatrogenic sciatic nerve injury. To the authors' knowledge there is no information concerning the use of intraoperative electromyographic monitoring during periacetabular osteotomy. The purpose of the current study was to investigate the use of intraoperative continuous electromyographic monitoring during periacetabular osteotomy in a relatively large consecutive series of patients as a mechanism to prevent nerve injury during surgery and as a prognostic indicator of neurologic function after periacetabular osteotomy. From September 1992 to July 1999, 140 consecutive periacetabular osteotomies were done in 127 patients at the authors' institution. There were 96 females and 31 males, with an average age of 32 years at the time of surgery. All patients had intraoperative electromyographic monitoring of femoral and sciatic innervated muscles. All patients were followed up for a minimum of 1 year, until complete resolution of neurologic deficits, or both. Thirty-six patients (26%) had abnormal electromyographic activity recorded during surgery. Seven patients (5%) had peroneal nerve deficits postoperatively including extensor hallucis longus and tibialis anterior weakness with loss of sensation in the first web space. Abnormal electromyographic activity was observed intraoperatively in five of the seven patients with postoperative deficits. Six of the seven injuries resolved completely. One patient with intraoperative electromyographic activity (0.7%) had a postoperative foot drop that persisted for greater than 1 year. There were no femoral, tibial, or obturator nerve deficits observed. Electromyographic monitoring appears to provide prediction of postoperative neurologic deficit.
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PMID:Intraoperative electromyographic monitoring during periacetabular osteotomy. 1207 58


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