PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Muscle Weakness”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 919 records · Page 51Linked to original sources
PubMed2026

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility.

OBJECTIVES: TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but such a finding was not further characterized. We describe a patient with a TUBA4A pathogenic variant with adulthood-onset genetic myasthenic syndrome accompanied by myopathy and infertility to highlight the neuromuscular junction defect as the main feature of the patient's phenotype. METHODS: We reviewed the patient's clinical and laboratory findings and performed transcriptomic analysis on the patient's muscle. RESULTS: A 53-year-old woman with infertility of unknown etiology manifested fatigability and proximal upper limb muscle weakness in her mid-30s, followed by lower limb involvement. Her examination showed proximal muscle weakness and fatigability but spared facial muscles. CK values were mildly elevated. Anti-AChR, MuSK, P/Q-type calcium channel, and LRP4 antibodies were absent. 2 Hz RNS showed decrement (-14% to -48%) in limb muscles that improved with 3,4-dyaminopyridine (3,4-DAP). Facilitation (231%) occurred in the trapezius. Muscle biopsy showed patchy loss of oxidative enzyme reactivity and no C5b9 or IgG at neuromuscular junctions. Whole genome sequencing identified a heterozygous known TUBA4A pathogenic variant (c.850G>A, p.Glu284Lys). Patient improved with 3,4-DAP and albuterol. DISCUSSION: TUBA4A p.Glu284Lys can lead to treatable myasthenic syndrome with postsynaptic and likely presynaptic involvement, as suggested by the patient's electrophysiological findings and response to therapy. This patient expands the TUBA4A-disorder spectrum to include overlapping myasthenic syndrome-myopathy and shows that neuromuscular disease and infertility can occur within the same patient.

Humans↗
PubMedDate not supplied

Scoliosis associated with central core disease.

A 12-year-old Japanese girl who had progressive severe scoliosis but with minimal muscle weakness in the extremities was found to have central core disease. In her muscle biopsies obtained from the biceps brachii and paraspinous muscles, there was type 1 fiber atrophy and predominance, as is commonly seen in congenital myopathies, but the core structure was identified only in the former. To determine whether scoliosis is a prominent feature of this disease, we reviewed 10 patients with central core disease in our laboratory and found 6 ambulant patients who had mild-to-moderate scoliosis. Since kyphoscoliosis becomes prominent as muscle weakness progresses to loss of ambulation in most muscle diseases, this disproportionate spinal involvement in central core disease appears to be a striking feature. All patients with 'idiopathic' scoliosis deserve a careful neurological evaluation, even if they have minimal muscle symptoms in the extremities.

Adult↗
PubMedDate not supplied

Early onset distal muscular dystrophy.

A 14-year-old Chinese boy, who first became aware of muscle weakness in the lower limbs at 6 years of age, had progressive distal muscle weakness and atrophy, predominantly in the lower leg muscles. He exhibited reduced ankle dorsiflexion and tended to walk on his toes, showing preferential anterior tibial muscle involvement. Laboratory examination revealed a moderately elevated serum creatine kinase level of 905 IU/l. Computed tomographic scanning of muscle disclosed low density areas in the lower legs. A muscle biopsy specimen from the biceps brachii revealed mild dystrophic changes. We made a diagnosis of distal muscular dystrophy based on these findings, but could not classify it as one of the previously reported forms. The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dystrophy, or a variant form of the Miyoshi type or tibial muscular dystrophy.

Adolescent↗
PubMed2002

[Case of hemophagocytic syndrome associated with active dermatomyositis].

We report a case of dermatomyositis (DM) with hemophagocytic syndrome (HPS). The patient is a 60 year old male admitted to our hospital with muscle weakness, high fever, weight loss and pancytopenia. On physical examination, proximal muscle weakness and skin rash on the back were noted. Laboratory data revealed elevated serum levels of muscle enzymes, lactate dehydrogenase and ferritin. Serum levels of M-CSF, TNF-alpha, soluble IL 2 receptor were remarkably increased. Bone marrow aspiration showed histiocytosis of 7 to 10% with prominent hemophagocytosis. Gastroendoscopic examination revealed II-a gastric cancer. He was treated with methylprednisolone (m-PSL) pulse theraphy (1 g/ day x 3 days) followed by 60 mg/day oral prednisolone. He quickly responded to the treatment and laboratory data returned to normal in 20 days despite the remaining gastric cancer which was removed successfully 3 months later. HPS is a rare complication of DM and only three cases have been documented so far in the literature. Augmented cytokine in his serum is considered to be closely related to HPS in this case.

Biomarkers↗
PubMed2004

Quadriceps weakness and its relationship to tibiofemoral and patellofemoral knee osteoarthritis in Chinese: the Beijing osteoarthritis study.

OBJECTIVE: Weakness has been documented as a feature of tibiofemoral knee osteoarthritis (OA) and may cause disease in this compartment by shock absorption during impulse loading at heel strike, when the patellofemoral joint is not engaged. Our objective was to determine the association of muscle weakness with compartment-specific knee OA, to evaluate sex-specific differences in this relationship, and to determine, by evaluating asymptomatic individuals with OA, whether symptoms may produce the weakness seen in OA. METHODS: This cross-sectional study involved 2,472 subjects (1,475 women and 997 men) ages 60 years or older from 4 central districts of Beijing, China. For all subjects, a skyline view of each knee and an anteroposterior (AP) or posteroanterior (PA) radiograph of both knees were obtained during weight bearing. Radiographs were read by one reader for Kellgren/Lawrence (K/L) grade, joint space narrowing (JSN), and osteophytes. We defined a subject as having tibiofemoral OA when the K/L grade was > or =2 on AP/PA view, patellofemoral OA on skyline view when the osteophyte score was > or =2 (or when the JSN score was > or =2 and the osteophyte score was > or =1), and mixed OA when the knee had both patellofemoral and tibiofemoral radiographic OA. Strength was measured isometrically for each leg separately, and knee pain was evaluated by questionnaire. RESULTS: In women, quadriceps weakness was associated with tibiofemoral OA (odds ratio [OR] 0.7, 95% confidence interval [95% CI] 0.4-1.0), patellofemoral OA (OR 0.6, 95% CI 0.4-0.9), and mixed OA (OR 0.4, 95% CI 0.3-0.6). In men, weakness was associated with mixed OA (OR 0.5, 95% CI 0.3-0.8), and the ORs suggesting an association of patellofemoral OA with weakness were the same as those in women, although in men this trend did not reach statistical significance (P = 0.12). In men, isolated tibiofemoral disease was not associated with weakness; however, the sample size in this analysis was limited. When subjects with knee symptoms were excluded, the relationship of quadriceps weakness to OA was attenuated, with only the relationship between muscle weakness and mixed OA remaining significant. CONCLUSION: There is a relationship between quadriceps weakness and knee OA in all compartments, with the strongest association in mixed disease. Pain may contribute to some of this weakness.

Aged↗
PubMed2002

Tubular aggregate myopathy with abnormal pupils and skeletal deformities.

A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia. Tubular aggregate myopathy with symptomatic smooth muscle dysfunction and skeletal deformities has not been described before.

Abnormalities, Multiple↗
PubMed1999

Inflammatory bowel disease and myositis.

A patient with Crohn's disease developed proximal muscle weakness, increased serum creatine phosphokinase activity and electromyographic abnormalities. A muscle biopsy was non-diagnostic. Although rare, myositis should be included in the differential diagnosis of muscle weakness in patients with inflammatory bowel disease.

Creatine Kinase↗
PubMed2004

Involvement of skeletal muscle in dialysis-associated systemic fibrosis (nephrogenic fibrosing dermopathy).

Nephrogenic fibrosing dermopathy (NFD), a newly recognized scleroderma-like disease, was originally described as a purely cutaneous disorder. More widespread involvement, including fibrosis of pulmonary and cardiac tissues, has been documented only recently, and it has been suggested that a more appropriate designation is dialysis-associated systemic fibrosis. We report five cases of this novel disorder, spanning a spectrum of primarily skin to primarily muscle involvement. Clinical, radiological, electrophysiological, and pathological studies revealed moderate to severe fibrosis of striated muscles. All patients had end-stage renal failure on chronic dialysis, subacute to chronic hardening of the skin and muscles, restriction of limb movements with joint contractures, but normal to only mildly weak muscle strength. Limitation of movements was caused predominantly by skin tightness and induration, and by joint contractures rather than muscle weakness. Computerized tomography showed fibrosis of the fascia and muscles in the most severely affected patients, and electromyography showed mild to severe myopathic changes. Histopathology of affected muscles revealed a spectrum of mild to severe fibrosis, degenerating fibers, and chronic inflammatory cells. These results further support the contention that NFD is not a purely cutaneous disease, but is part of a larger systemic fibrotic process that may involve muscles.

Adult↗
PubMed1997

[A case of isolated ACTH deficiency with neuromuscular symptoms].

A female case of isolated ACTH deficiency associated with neuromuscular symptoms was reported. Although her initial development was delayed with perinatal troubles, developmental catch up was seen. The patient complained of general fatigue with weakness and poor school performance at the age of eleven. Muscle weakness predominant to the proximal portion and mental dullness were suspected from neurological examination. Her laboratory data were as follows; mild elevation of CK in serum, subclinical thyroidal dysfunction, abnormal electrocardiogram, slow wave activity on electroencephalogram, delayed nerve conduction velocity, and localized hypoperfusion of cerebral blood flow on single photon emission computed tomogram. Histological examination of muscle biopsy demonstrated only mild fiber size variation. During two years' follow-up, her intelligence quotient fell down, while muscle weakness did not progress significantly. At the age of fourteen, a low level of plasma ACTH was pointed out by chance and a definitive diagnosis was obtained by endocrinological examinations; no response of ACTH and cortisol on insulin stimulation, delayed response of cortisol on continuous ACTH stimulation, and no response of plasma ACTH on corticotropin releasing hormone stimulation. Other signs of adrenocortical insufficiency, such as hypoglycemia and abnormal serum electrolytes, were not observed during the clinical course. This case suggested that isolated ACTH deficiency should be considered for differential diagnosis of neuromuscular disorders.

Adrenocorticotropic Hormone↗
PubMed2004

[Progressive muscular atrophy: clinical and laboratory study in eleven patients].

Progressive muscular atrophy (PMA), an infrequent type of motor neuron disease (MND), is a predominantly lower motor neuron degeneration, causing muscle wasting and weakness with loss of weight and fasciculations. The diagnosis is based on rigid criteria, considering clinical aspects and eletroneuromyography findings. Blood tests and radiological investigation are necessary to look for other diagnosis mimicking PMA. We herein present 11 patients with PMA (5.9% of all our MND patients), 9 men and 2 women, which onset of symptoms occurred mainly under de age of 50, with a mean of 45.5 years. Cramp was the most frequent symptom preceding muscular weakness. Muscle pain, fatigue and fasciculations were also cited as starting symptoms. Asymmetric weakness of the arms was the most frequent pattern of onset of the disease. Bulbar muscular weakness developed in all patients during the course of the disease. Predisposing factors and distinctive clinical outcome was not observed in any of the patients. Ophthalmoparesis and sphincter dysfunction were seen in two patients who had a prolonged time in artificial respiratory assistance. Immunosuppressive therapy was ineffective in all patients. Progressive course was seen in all cases and the mean survival time was 44 months.

Adjuvants, Immunologic↗
PubMed1982

Comparative study on the acute effects of benzene, toluene and m-xylene in the rat.

Solvents were tested for their influence on motivational state, as well as for their sedative effects, after intraperitoneal administration. The following tests were used: open field (exploratory activity, locomotion), activity wheel (running activity), tube test and tilted plane (muscle weakness, incoordination). The agents proved to be similar in causing muscle weakness and ataxia already at low dose levels. Benzene was the most potent in this respect. The three solvents, however, contrasted strongly in influencing motor activity. While benzene and especially toluene exerted CNS stimulation, no such effect could be detected following m-xylene treatment. On the basis of human experiences with these substances it may be suggested that the screening procedure applied in rats might be useful for predicting acute adverse effects in man.

Acute Disease↗
PubMed1976

[Pseudoparalytic myasthenia gravis. Diagnostic and therapeutic aspects in 60 separate cases].

Based on 60 of our own cases and on the medical literature the authors discuss the diagnostic, pathophysiological and therapeutic aspects of myasthenia gravis. Myasthenia is suspected in cases of motor weakness of changing intensity, diminishing by rest. The weak muscles are innervated by different peripheral nerves. At the beginning a weakness of upperlid-muscles, external eye muscles and bulbar muscles is particularly frequent. There is no sensory loss or other neurological symptoms. A transitory disappearance of motor weakness after an intravenous dose of Edrophonium (Tensilon) is a typical diagnostic sign. The effect is less evident with eye-muscle weakness. A typical appearance of potentials after repetitive stimulation of peripheral nerves as well as other characteristics in electrophysiological testing of muscles are of high diagnostic value. This allows differentiation from other types of muscle weakness. In the pathogenesis of myasthenia an autoimmune process related to a persistent thymus gland plays an important part. This leads to an ultrastructural change in the postsynaptic membrane of the muscle fibre. The postsynaptic membrane no longer reacts in a normal way to acetylcholine as a transmitter substance at the level of the motor endplate. Therefore the first step in the treatment of myasthenia consists of cholinesterase-inhibitors, specially Neostigmin (Prostigmin) and Pyridostigmin (Mestinon). Thymectomy is advised in all cases of myasthenia with the exception of the pure ocular form and of myasthenia in patients older than 60 years. The thymus gland is practically always persistent or hypertrophic in myasthenia. The suprasternal access is recommended. A thymoma should always be operated upon because of the danger of malignancy. In cases where thymectomy is not performed or not successful and if cholinesterase-inhibitors are not sufficiently efficient, treatment with corticosteroids or ACTH is recommended.

Adolescent↗
PubMed2000

Dermatomyositis accompanied by rectal cancer: report of a case.

Dermatomyositis (DM) is a rare inflammatory disorder of the skin and muscles associated with an increased incidence of malignancy. We describe herein the case of a 59-year-old woman with DM accompanied by rectal cancer. Following excision of the rectal cancer, the characteristic features of the skin rash such as the heliotrope eyelid rash and Gottron's papules, and proximal muscle weakness, improved. Moreover, the elevated preoperative serum levels of muscle-associated enzymes, including aspartate transaminase, creatine phosphokinase, lactate dehydrogenase, and aldolase, decreased from 38 to 16 (IU/1), 138 to 42 (IU/1), 672 to 515 (IU/1), and 32.2 to 4.3 (IU/1), respectively. The current concepts of the correlation between DM and malignancy are discussed with regard to the present case.

Adenocarcinoma↗
PubMed2003

Quantitative motor assessment in myotonic dystrophy.

OBJECTIVE: To establish baseline data, using a quantitative motor evaluation protocol, prior to a prospective longitudinal study of the natural history of muscular involvement in myotonic dystrophy (DM). DESIGN/METHODS: We conducted a cross-sectional study using a protocol consisting of manual muscle testing (MMT), quantitative muscle testing (QMT), and timed functional testing (TFT) on 50 definite DM patients (27 men, 23 women), aged 16 to 67 years. The relationships between MMT, QMT and TFT scores and disease duration were examined using linear regression analysis. RESULTS: The muscle weakness was symmetric and the neck flexors and the distal muscles of upper and lower extremities were weaker than proximal muscles. Using MMT scores, the average strength decline was 0.95% per year and was similar for men and women. The strength decline was significantly more rapid for distal muscles than for proximal muscles. Quantitative muscle testing scores documented a strength decline per year of disease duration of 1.2-1.6% for the hip flexors and of 2.0-3.0% for the hand grip flexors. CONCLUSIONS: We observed significant linear relationships between the scores generated by this protocol and disease duration. These data illustrate the distal to proximal progression of muscular involvement in DM, a pattern of progression well-recognized by the clinicians. The follow-up assessment of a large DM cohort in a longitudinal study will establish whether this quantitative protocol provides sensitive measures of the disease progression.

Adolescent↗
PubMed1999

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle fibers. Recently, a missense mutation inTPM3, which encodes the slow skeletal alpha-tropomyosin (alphaTm), was linked to NM in a large kindred with an autosomal-dominant, childhood-onset form of the disease. We used adenoviral gene transfer to fully differentiated rat adult myocytes in vitro to determine the effects of NM mutant human alphaTm expression on striated muscle sarcomeric structure and contractile function. The mutant alphaTm was expressed and incorporated correctly into sarcomeres of adult muscle cells. The primary defect caused by expression of the mutant alphaTm was a decrease in the sensitivity of contraction to activating Ca(2+), which could help explain the hypotonia seen in NM. Interestingly, NM mutant alphaTm expression did not directly result in nemaline rod formation, which suggests that rod formation is secondary to contractile dysfunction and that load-dependent processes are likely involved in nemaline rod formation in vivo.

Adenoviridae↗
PubMed1999

[A case of post-irradiation lumbosacral radiculopathy successfully treated with corticosteroid and warfarin].

A 33-year-old man underwent post-operative radiation therapy for the left testicular anaplastic seminoma. One year later, the patient developed muscle weakness and sensory disturbance in the left lower extremity, and muscle weakness in the right lower extremity. MRI demonstrated linear and focal gadolinium (Gd) enhancement of the anterior portion of the lumbosacral roots within the cauda equina. The neurological symptoms improved after administration of corticosteroid and warfarin. Radiation myelopathy of this type was classified as "selective anterior horn cell injury or amyotrophy" by Reagan, and the site of the lesion was considered to be the lower motor neurons. However, based on the clinical and MRI findings, we proposed that the disease process was injury to the spinal nerve roots rather than the lower motor neurons. Recent neuropathological studies of this syndrome have demonstrated degeneration of the proximal spinal nerve roots. We consider that primary lesions of this syndrome occur in spinal nerve roots rather than in lower motor neurons, and "lumbosacral radiculopathy" is a more appropriate term for this condition.

Adult↗
PubMed1992

[Magnetic stimulation motor evoked potential in patients with Guillain-Barré syndrome].

In 27 patients with Guillain-Barré syndrome (GBS), motor evoked potentials (MEP) were compared with electromyography (EMG), nervous conduction velocity (NCV), F wave and somatosensory evoked potentials (SEP). The positive rate of MEP was 74%, and 83% of EMG. The findings of MEP were consistent with pathological changes of demyelination and clinical distribution of muscle weakness. A good correlation between abnormal MEP and degree of muscle weakness (P < 0.01) was noted. MEP should be regarded as an objective index for diagnosis, differential diagnosis, followup and effect of therapy. MEP is painless and can be done easily and repeated.

Action Potentials↗