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Results for “Muscular weakness”

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At least 451 records · Page 25Linked to original sources
PubMed1989

[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis].

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test. However, waning phenomenon on repetitive nerve stimulation or elevation of titer of the anti-acetylcholine receptor antibody was not detected on both patients. Needle EMG showed mild myopathic changes. Finally, pathological and biochemical analyses of the biopsied muscles confirmed the diagnosis of mitochondrial myopathy (focal cytochrome c oxidase deficiency).

Adult↗
PubMed1979

[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].

This report deals with two sisters who died with eight, respectively ten weeks under the signs of respiratory failure caused by progressive muscular weakness. Only an elevated cerebrospinal fluid protein was suspicious of an additional disturbance of the central nervous system. Muscle biopsy revealed a vacuolar myopathy. Histochemistry showed lipid storage, increased mitochondrial enzyme activity, and to a lower degree, glycogen accumulation especially in type I muscle fibers. Electron microscopy confirmed elevated lipid content in combination with increased, enlarged and abnormally structured mitochondria. Biochemical studies on muscle biopsy, in comparison with normal children, showed a significant decrease of carnitine content and an increased activity of carnitine palmityltransferase. Retrospectively from a clinical point of view this disease is suggestive of "systemic carnitine deficiency", even if some symptoms (hepatomegaly, cardiomyopathy) were not present and serum- and liver carnitine was not measured because the children died before the diagnosis of muscle carnitine deficiency was confirmed. The clinical picture of these two fatal cases is compared with another observation of muscle caritine deficiency. This child shows only a mild course of muscle disorder, but very similar morphological changes in muscle biopsy. Biochemically, there was a clear decrease in muscular carnitine, while the serum levels were in the normal range. The activity of muscular carnitine palmityltransferase was also normal.

Biopsy↗
PubMed1990

[Thyroid myopathy. Effect of treatment with thyroid hormones].

We studied 20 patients afflicted with primary hypothyroidism and treated with thyroid hormone replacements, with the aim of evaluating the clinical, biochemical, EMG and anatomo-pathological effects. Cramps, as well as subjective and objective proximal muscular weakness, disappeared. Seric CPK was normalized in all cases after 1-8 weeks of treatment. EMG myopathic patterns faded away in all cases. Anatomopathological changes took longer to observe; 5 cases with new biopsy showed an isolate atrophy of type II fibers, one of them after 18 months in treatment; type I fibers had mitochondrial accumula without change compared to the initial biopsy. There was a clear tendency for the destroyed fibers to become normalized and for the structures similar to the "core" to vanish.

Adult↗
PubMed1985

The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics.

We report on a 2-yr-old boy with progressive muscular weakness and respiratory failure. There was no clinical evidence of heart muscle involvement. Autopsy showed marked intralysosomal glycogen deposition in skeletal muscle and liver with no histological evidence of glycogen deposition in cardiac muscle. The activity of the lysosomal enzyme alpha-1,4-glucosidase was deficient in skin fibroblasts, skeletal muscle, cardiac muscle, and liver; however, the enzymatic activity in peripheral blood leukocytes was in the low normal range. The child's mother had normal enzymatic activity in leukocytes but heterozygote levels in skin fibroblasts.

Child, Preschool↗
PubMed1982

Congenital myopathy and communicating hydrocephalus--a possible pathogenetic combination.

A 5 1/2-year-old boy with congenital myopathy associated with communicating hydrocephalus is described. Motor milestones were delayed with generalized nonprogressive muscular weakness and moderately elevated serum CK. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity which were characterized ultrastructurally by myofibrillar disorganization and Z-band streaming with decrease or absence of mitochondria in this area. The head circumference measured more than 98 percentile at 14 months. The CT scan disclosed moderately dilated ventricles and enlarged cortical sulci. Radioisotope cisternograms showed early ventricular reflux and persistence of radioactivity especially in the parasaggital region even after 72 hours. Some common pathogenetic mechanism may have been involved in the development of both the myopathy and the hydrocephalus.

Child, Preschool↗
PubMed1999

[True neurogenic outlet syndrome: report of 2 cases].

True neurogenic thoracic outlet syndrome is caused by compression of the lower trunk of the brachial plexus usually by a cervical rib, fibrous band or an elongated transverse process of C7. We describe two cases of female patients (23 and 19 years old) with pain in the right superior limb and progressive muscular weakness and atrophy of the intrinsic muscles of hand. Electrodiagnostic studies showed reduced amplitude of compound muscle action potential of median nerve and decreased amplitude of ulnar sensory nerve action potential. Motor and sensory nerve conduction velocities were normal in both patients. Needle electromyography were findings compatible with chronic denervation in the intrinsic muscles of the right hand of both patients. Radiological investigation showed cervical ribs in one case and elongated transverse process of C7 in the other. A discussion about the clinical and electrophysiological features and the treatment of the syndrome was performed.

Adult↗
PubMed1991

[A family with autosomal dominant hereditary myoedema, muscular irritability, stiffness and hypertrophy].

A familial case with autosomal dominantly transmitted myoedema, muscular irritability, stiffness and hypertrophy was reported. The patient is 54 years old and his father, two sisters and niece had suffered from the similar symptoms. He had noticed a feeling of stiffness and pain in the femoral muscles after several minutes of erect position from the age of 5-6 years. He had observed that light tapping of muscles caused a bulge which persisted for several seconds in the whole body. These symptoms were not progressive. The patients had an athletic appearance, hypertrophy of gastrocnemius muscles, pes cavus and hammer toes. Mild muscular weakness and wasting were noted in the intrinsic hand muscles and the anterior tibial muscles. Myoedema was seen in the muscles of the whole body. His thyroid functions were normal. EMG studies showed no myotonic discharges. Light microscopy of biopsy specimens from the biceps brachii muscle showed unspecific myopathic changes. Electron microscopy showed many vacuoles between myofibrils. The symptoms and signs of this case are very like to those of the cases which Torbergsen described in 1975 and only four families were reported after that. The family presented here is the first report in Japan.

Edema↗
PubMed1995

Measurement of muscle strength of the trunk and the lower extremities in subjects with history of low back pain.

STUDY DESIGN: Isokinetically measured muscle strength of the trunk and lower extremities was analyzed. OBJECTIVES: The causes of the weak trunk muscle strength of subjects with low back pain were studied. SUMMARY OF BACKGROUND DATA: Although it is a commonly accepted conclusion that subjects with low back pain have weaker trunk muscles than the normal population, there are no reports concerning muscle strength of the lower extremities in subjects with low back pain. METHODS: Ninety-eight male volunteers were divided into control groups and groups with low back pain. The total trunk strength and total knee strength were defined as the sum of the peak torques of trunk extension, flexion and rotation, and of bilateral knee extension and flexion, respectively. RESULTS: The total trunk and knee strength in the group with low back pain (281 +/- 170 and 301 +/- 132 Nm) were significantly lower than in the control group (543 +/- 124 and 441 +/- 123 Nm). The total trunk and knee strength were linearly correlated in both groups (r = 0.67 and 0.79). CONCLUSIONS: In the group with low back pain, the muscles of the trunk and the lower extremities were similarly affected; this can be attributed to generalized muscular weakness or psychologic factors, such as fear of injury.

Adolescent↗
PubMed1983

Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America.

Adolescent↗
PubMedDate not supplied

Spinal muscular atrophy in the neonate.

Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality. The characteristic degeneration of anterior horn cells in the spinal cord leads to progressive muscular weakness and atrophy of the skeletal muscles. In SMA type I, the most severe form of SMA, death usually ensues by 2 years of age from respiratory failure or infection. Accurate diagnosis is now available through genetic testing, and progress is being made toward the development of therapy based on understanding of the disease mechanism. The neonatal nurse plays a pivotal role in identifying and caring for these medically fragile infants and in providing support and education for parents and families.

Chromosome Deletion↗
PubMed1972

X-linked scapuloperoneal syndrome.

Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations favoured a myopathic basis. The inheritance was of X-linked recessive pattern and the disorder was linked with deutan colour blindness. The clinical features in this family appear to be distinctive and it is likely that the disorder represents a separate clinical entity.

Adolescent↗
PubMed2004

Congenital myopathy in Japanese Black calves.

Two Japanese Black bull calves from a dam showed muscular weakness and became recumbent after birth. At necropsy, skeletal muscles, including face, neck, body and proximal and distal forelimb and hindlimb were extremely pale in color and edematous. Histopathological examination of skeletal muscles revealed degenerative changes as follows: replacement of muscle with fat, variation in muscle fiber diameter, internal nuclei, central core-like structures, and vacuolar and hyaline degeneration of muscle fibers. Ultrastructurally, the lesions were characterized by focal myofibrillar disorganization with streaming or irregularity of Z bands. The present cases seem to be classified as congenital myopathy based on pathological alterations and age of onset.

Animals↗
PubMed1997

[Vitamin-resistant rickets cured by removal of a bone tumor. Review of the literature].

PURPOSE OF THE STUDY: Rickets secondary to bone or soft tissue tumors are rare in children. Majority of the reported cases occurred in adults older than thirty. This entity can be cured after tumor removal. The authors present a case in a ten year boy and literature review. MATERIAL: A ten year boy complained of diffuse bone and muscle weakness for two years. A diagnosis of arthritis was made but the patient continued to complain. Serum calcium level was normal (2.33 mmol/l), phosphorus was very low (0.43 mmol/l), serum alkaline phosphatase was high, parathyroid hormone and vitamin D level were normal. Urinalysis showed abnormal phosphate excretion. METHODS: The absence of malabsorption, no family history of rickets or hypophosphatermy presence of a marked excess of urinary phosphate, very low serum phosphate and normal serum calcium, vitamin D and parathyroid hormone levels led us to consider a diagnosis of tumor induced osteomalacia. Radiographs showed a large round radiolucent lesion in the left superior pubic ramus and generalized demineralisation. RESULTS: We performed a complete tumor resection and the space was filled with bone graft. On histopathologic examination it was a benign mesenchymal tumor. Rapid reversal of biochemical anomalies, radiographs anomalies and clinical manifestation were observed after complete tumor resection. DISCUSSION: The authors have described the tumor, the osteomalacia and the pathogenesis of tumor rickets. Histologically the most common causative tumors were vascular tumors, mesenchymal tumors and non ossifying tumors. The tumor were of bone or soft tissue origin. Clinical symptoms were muscular weakness, bone and muscle pain. Biochemically there is a very low phosphate level, a normal serum calcium level as well as a normal vitamin D and PTH level. There is a significant high level of urinal phosphate. The mechanism proposed to explain oncogenic osteomalacia includes tumor secretion of phosphaturic substance other than PTH and calcitonin. Another hypothesis is a substance interfering with normal vitamin D metabolism. The pathogenesis is not clearly defined. CONCLUSION: Regardless to the mechanism of osteomalacia, complete removal of the tumor will cure the patient. A diligent search for tumors should be done in patients with vitamin D resistant rickets.

Bone Neoplasms↗
PubMed1993

Muscle complications of malnutrition in children: a clinical and electromyographic study.

The authors report the clinical and electromyographic (EMG) findings in a series of 13 children with a pseudomyopathic motor deficit in the context of malnutrition (Body Mass Index < or = 3rd percentile) caused by primary protein-calorie deficiency or secondary to chronic disease. The infants (nine cases) manifested a regression or stagnation of motor abilities, with hypotonia and amyotrophy; older children and adolescents (four cases) presented clear amyotrophy with a deficit in muscle strength consisting primarily of proximal muscular weakness. Detection and stimulation-detection EMG demonstrated myogenic signs in at least two muscles in all patients. Myogenic signs were dominant in all proximal muscles. Latencies were normal in all patients. Motor nerve conduction velocities were slowed in three infants and in one adolescent. A temporal dispersion of motor responses was observed in 11 proximal muscles. The muscle biopsy, performed in five cases, revealed an inequality in the calibre of fibres, with atrophy dominating in type II fibres. The authors emphasize the value of EMG in disclosing the myopathic process, thereby contributing to the etiological diagnosis of motor difficulties in children suffering from malnutrition or a chronic disease.

Adolescent↗
PubMed1999

Atypical form of amyotrophic lateral sclerosis.

OBJECTIVE: To investigate patients with an unusual type of muscular atrophy confined to the upper limbs (proximally dominant) and the shoulder girdle, while sparing the face and the legs until the terminal stage. METHODS: Eight patients (six men and two women) were clinically examined. The age at onset ranged from 42 to 73 years, and the clinical course varied from 28 to 81 months. There was no family history of motor neuron disease in any of these patients. Necropsy was performed in two of them. RESULTS: All eight patients basically showed a similar distribution of muscular weakness and atrophy. Subluxation of the shoulder joints was found in all patients. Reflexes were absent in the upper limbs in all patients, but were almost normal in the face and legs in most patients. Pathological reflexes could be elicited in only one patient. Electromyography showed typical neurogenic changes in the limbs of all patients. Cervical MRI disclosed moderate spondylotic changes in seven patients. Antiganglioside antibodies were negative in six patients tested. Abnormal trinucleotide (CAG) repeat expansion of androgen receptor gene was not recognised in five patients examined. Bulbar involvement developed in three patients during the course of the disease. At necropsy, one patient showed degeneration of the pyramidal tracts and motor cortex including Betz cells as well as loss of spinal anterior horn cells and brainstem motor neurons, which is consistent with ALS; in another patient there was neuronal loss of anterior horn cells at the spinal cord accompanied by astrogliosis, whereas the motor cortex and brainstem motor nuclei were relatively well preserved. Intracytoplasmic inclusions such as Bunina bodies, skein-like inclusions, and Lewy body-like inclusions were found in both patients. CONCLUSION: These patients with their peculiar pattern of muscular atrophy seem to have ALS or a subtype of ALS.

Adult↗
PubMedDate not supplied

[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of motor neurones in the spinal cord. The symptoms of the disease are determinated by mutations of SMN1 gene. About 98% of SMA patients show homozygous absence of exon 7 SMN1 gene, the rest carry small intragenic mutations. Molecular analysis of the presence of exon 7 SMN1 gene deletion is considered as the screening test for SMA. We present a case report of a 9 years old girl with progressive muscular weakness of limbs and trunk. Clinical examination followed by electromyography and muscle biopsy was interpreted as a diagnostic of SMA 3. Molecular analysis did not reveal deletion of exon 7 SMN1 gene. Extended molecular diagnostics using direct sequencing showed missence mutation T2741. Thus, the absence of homozygous deletion of exon 7 SMN1 gene does not exclude SMA diagnosis. All patients fulfilling the diagnostic criteria for SMA, as defined by the International SMA Consortium, without deletion of exon SMN1 gene, should be analysed using direct sequencing.

Biopsy↗
PubMed2004

[Distal myopathies].

Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative mutations. They are classified according to age at onset, mode of inheritance, and muscle groups initially involved into the following: Laing myopathy (infancy onset, autosomal dominant inheritance, onset in anterior compartment of legs) caused by mutations in a myosin gene (MYH7) on chromosome 14q; Nonaka myopathy (early adult onset, autosomal recessive inheritance, onset in anterior compartment of legs), identical to quadriceps-sparing familial inclusion myopathy, caused by mutations in the GNE gene on chromosome 9p-q; Miyoshi myopathy (early adult onset, autosomal recessive inheritance, onset in posterior compartment of legs) caused by mutations in the dysferlin gene on chromosome 2p; Welander myopathy (late adult onset, autosomal dominant inheritance, onset in hands) linked to chromosome 2p; Udd/Markesbery-Griggs myopathy (late adult onset, autosomal dominant inheritance, onset in anterior compartment of legs) caused by mutations in the titin gene on chromosome 2q. Except for Miyoshi myopathy, which has a striking elevated serum creatine kinase level and the typical findings of muscular dystrophy, most of the distal myopathies have normal or midly elevated creatine kinase levels and share the common pathologic feature of rimmed vacuoles.

Adolescent↗
PubMed1997

Facioscapulohumeral muscular dystrophy: clinical diversity and genetic abnormalities in Japanese patients.

We studied 71 Japanese individuals, 42 patients (30 familial and 12 sporadic) suspected to have facioscapulohumeral muscular dystrophy (FSHD) and 29 family members, clinically and genetically using the chromosome 4qter DNA marker p13E-11. Early onset FSHD was detected in 7 patients, tortuosity of retinal arterioles and hearing impairment in 3 patients, progressive respiratory failure in 3 patients and limb-girdle type muscular weakness in 6 patients. Thirty-six (85.7%) FSHD patients, 3 asymptomatic family members and 1 of 35 healthy volunteers showed EcoRI digestion fragments shorter than 28kb. New mutations were detected in 25% of the patients with shorter EcoRI fragment. The age of disease onset appeared younger with successive generations in 6 parent-child pairs in FSHD families. We confirmed the existence of phenotypic and genetic diversities in Japanese patients with FSHD. It is still difficult to explain the phenotypic diversity merely by the size of the abnormal EcoRI fragment detected with the p13E-11 probe.

Arterioles↗