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)

Fibular (peroneal) intraneural ganglia classically present with predominant tibialis anterior weakness, for which there is no clear anatomical explanation. We identified a new imaging pattern, which consisted of involvement of a proximal tibialis anterior branch, in patients with fibular intraneural ganglia. This study characterizes the cystic involvement of this tibialis anterior branch and evaluates its significance. The magnetic resonance imaging (MRI) and clinical data of 23 patients with fibular intraneural ganglia were retrospectively reviewed. The tibialis anterior branch was consistently involved with the cyst, and this involvement, although variable, was more prominent than the cystic involvement of other terminal branches of the fibular nerve. The finding of cyst extension within a muscle end-organ branch seems likely to explain, in part, the characteristic clinical finding of preferential foot drop in patients with fibular intraneural ganglia.
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PMID:Tibialis anterior branch involvement in fibular intraneural ganglia. 1988 39

Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in the anterior compartment of leg muscles. Her 67 year-old brother, started to show muscle weakness, pain at lower limbs and hypertrophy of calf muscles at the age of 66 years. Their mother began to show foot drop and impaired walking from the age of 60 years. Other relatives are reported to be affected in a similar way. Because the phenotype appeared compatible with TMD, we analyzed the TTN gene in the DNA of the proband and we identified a heterozygous mutation 293326A>C. This mutation is also present in the brother and in the other affected individuals of the same family. The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. The mutation was not found in 100 Italian control DNA samples. Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients. No other disease causing mutations in the TTN gene have so far been reported in the Italian population.
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PMID:The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 1991 Dec 50

Over the course of 8 weeks, a 50-year-old man developed progressive bilateral leg and arm weakness, with numbness and tingling of the feet and hands. His symptoms persisted for 6 months, with impaired manual dexterity, arm weakness when brushing his teeth, tripping when walking, inability to climb stairs and gait imbalance. On examination, there is mild proximal and distal weakness of the upper and lower extremity muscles, length-dependent sensory loss of vibratory perception and joint position sense, areflexia, positive Romberg test and steppage gait with bilateral foot drop. Motor nerve conduction studies of the arms and legs show partial conduction blocks in several nerves with nonuniform slowing, and sensory responses are absent in the hands, however, normal sural responses are noted. Lumbar puncture reveals acellular cerebrospinal fluid with elevated protein. After 2 months following treatment, his strength and gait improved significantly, and his sensory symptoms resolved.
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PMID:Chronic inflammatory demyelinating polyneuropathy: diagnosis and management. 2044 24

A 59-year-old man was diagnosed with IgA-kappa multiple myeloma in October 2005. He was treated with 4 courses of VAD and autologous peripheral blood stem cell transplantation (auto-PBSCT) after 200 mg/m(2) melphalan in September 2006, followed by a second auto-PBSCT after 200 mg/m(2) melphalan in February 2007. However, he did not achieve a very good partial response (VGPR). Laboratory examinations showed increased serum IgA level and renal dysfunction gradually progressed. Bortezomib was then started at a dose of 1.3 mg/m(2) in November 2008. After three cycles of bortezomib, the patient developed numbness, pain and weakness of his upper and lower extremities. The sensation of position and vibration was diminished in the fingers and toes. He developed left foot drop and gait disturbance due to left peroneal nerve palsy. Autonomic dysfunction such as orthostatic hypotension and urinary retention also occurred. Nerve conduction studies showed severe sensorimotor polyneuropathy particularly in the lower extremities. He developed grade 4 motor neuropathy and severe painful neuralgia. Six months after the cessation of bortezomib, these symptoms gradually improved and he was able to walk with support and discharged. Close monitoring of neurological symptoms and prompt dose-reduction or cessation of bortezomib are important to prevent the progression of irreversible peripheral neuropathy.
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PMID:[Severe bortezomib-induced peripheral neuropathy in a patient with multiple myeloma]. 2046 23

Management of footdrop in severe Charcot-Marie-Tooth (CMT) patients is a challenge owing to the combination of quadriceps muscle weakness, distal muscular atrophy, sensory impairment and poor soft tissue resistance to the placement of an orthotic device. We present a case study of a patient who gradually became unable to use his ankle-foot orthoses because they hampered the compensative movements required to stabilize his knees passively and caused pain. The aim of this report is to describe orthotic management in such a severe CMT case and to present a new orthotic device that we devised for the footdrop in this patient. We provided him with 3 different footdrop devices, each of which was highly elastic to allow knee hyperextension, and left him free to decide which one to use: 1) the silicone-ankle-foot orthoses were rapidly discarded because of pain; 2) the Codivilla support was not used because of discomfort and poor aesthetic appearance; 3) a new device, called the "Soft Footdrop Insert" (SFI), consisting of a sheet of Veolform, a reticulated polyolephinic foam, stuck to the counter of midcalf boots, was found to be effective, comfortable, pain-free and aesthetically acceptable, and was consequently used the vast majority of the time. At a 3-year follow-up, an instrumental gait analysis, in which ordinary shoes were compared with the Codivilla support and the SFI, revealed that both the Codivilla support and the SFI controlled footdrop more effectively than ordinary shoes and increased swing and mean velocity; in addition, the SFI yielded the best gait performances. We think that a soft, invisible device, such as the SFI, may satisfy the needs of CMT patients and improve compliance with orthoses-wearing for footdrop.
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PMID:Gait analysis in a patient with severe Charcot-Marie-Tooth disease: a case study with a new orthotic device for footdrop. 2092 1

Seven children with sciatic neuropathy associated with an underlying neoplasm are reported. Clinical presentation, electrophysiological data, imaging, pathology, and/or autopsy results are described. Pain and weakness, primarily foot drop, were the most common presenting symptoms. The mechanism of sciatic neuropathy was varied and included: nerve infiltration by the adjacent neoplasm (neuroblastoma, rhabdomyosarcoma, and leukemic or lymphomatous infiltration); an expanding, intrinsic neurogenic tumor (perineurioma); or intraoperative stretch injury (osteosarcoma resection). The prognosis for sciatic nerve recovery was good among children who survived their associated cancer. Three children died from the cancer or complications of treatment. One child with perineurioma remained clinically stable, and two children improved after treatment of their neoplasm.
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PMID:Pediatric sciatic neuropathy associated with neoplasms. 2125 82

Inclusion body myositis (IBM) is the most common acquired myopathy in people older than 50 years. IBM typically presents with distal upper extremity weakness accompanied by proximal lower extremity muscle weakness. Associated clinical findings include asymmetric weakness, foot drop, and dysphagia. The pathogenesis of IBM is not clear. In this article the authors briefly discuss postulated pathogenic mechanisms. Although no proven pharmacotherapy exists, some promising candidates are discussed.
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PMID:Inclusion body myositis: diagnosis, pathogenesis, and treatment options. 2144 18

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. We report a new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected members in three generations. Patients had onset of distal leg muscle weakness and atrophy in the anterior compartment muscles after age 35, which caused a foot drop at age 50. None of the siblings had scapular winging, proximal myopathy, cardiomyopathy or respiratory problems during long-term follow-up. Three distal myopathy patients developed rapidly progressive dementia, became bedridden and died of cachexia and pneumonia and VCP gene mutation P137L (c.410C>T) was then identified in the family. Late onset autosomal dominant distal myopathy with rimmed vacuolar muscle pathology was not sufficient for exact diagnosis in this family until late-occurring dementia provided the clue for molecular diagnosis. VCP needs to be considered in the differential diagnostic work-up in patients with distal myopathy phenotype.
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PMID:Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. 2168 47

The herpes zoster virus is a rare but potential cause of acute motor weakness. This article describes 2 patients with drop foot secondary to an infection of varicella zoster who were incorrectly referred to an orthopedic clinic from their general practitioners. The first patient was a 74-year-old man who presented with weakness in the right foot and a vesicular rash. The pattern of disease supported the clinical diagnosis of shingles affecting the L5 motor and sensory division. No investigation was required, and the patient was treated with a foot drop splint. The second patient was a 71-year-old man who presented with right leg and foot weakness and a vesicular rash affecting his right buttock and posterior right thigh. Lumbar magnetic resonance excluded a stenotic lesion; electrophysiological studies supported the diagnosis of a lower motor neuron lesion. The patient was treated with a 1-week course of acyclovir and a foot drop splint. The correct diagnosis will aid in correct referral and will prompt management, which will potentially provide a faster and better outcome for the patient.
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PMID:Herpes zoster virus: an unusual but potentially treatable cause of sciatica and foot drop. 2214 20

A patient with peripheral polyneuropathy after bariatric surgery for morbid obesity is reported. She suffered from frequent episodes of vomiting and abdominal pain after surgery. Muscle weakness in her lower limbs developed 5 months later and she experienced difficulty in walking and standing. Wrist drop, foot drop, and marked distal limb muscle atrophy were found bilaterally. Electromyography showed the presence of sensorimotor axonal polyneuropathy. Nutritional deficiencies may play an important role in pathogenesis. This uncommon neurological complication might be due to rapid weight loss and vitamin deficiency. Physicians who take care for patients after bariatric surgery should have a high index of awareness for the neurologic complications, and routine vitamin supplementation might be useful for these patients.
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PMID:Peripheral polyneuropathy after bariatric surgery for morbid obesity. 2217 46


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