Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “PROGRESSIVE MUSCULAR ATROPHY”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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

At least 1,495 records · Page 83Linked to original sources
PubMed2003

Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy.

OBJECTIVE: To evaluate the clinical features, muscle pathology and response to treatment in patients with a necrotising myopathy, without mononuclear cell infiltrates. BACKGROUND: Mononuclear cell infiltrates in the muscle biopsy specimen are the diagnostic hallmark of the immune-mediated idiopathic inflammatory myopathies (IIM). In patients with the typical clinical features of IIM, absence of these infiltrates in the muscle biopsy specimen casts doubt on the diagnosis and leads to uncertainty about therapeutical strategies. METHODS: A detailed description is given of the clinical, laboratory, and histopathological features of eight patients suspected of having an idiopathic inflammatory myopathy, in whom mononuclear cell infiltrates in their muscle biopsy specimens were lacking. RESULTS: Eight patients (five men, three women, age range 40-69 years) had severe, symmetrical proximal weakness with a subacute onset. There were no skin abnormalities suggesting dermatomyositis. Serum creatine kinase activity was more than 10 times elevated. Repeated muscle biopsy specimens, taken from a symptomatic muscle prior to immunosuppressive treatment showed widespread necrosis, regeneration, and atrophy of muscle fibres, but no mononuclear cell infiltrates. Known causes of necrotising myopathy were excluded. Three patients had a malignancy. Adequately dosed and sustained immunosuppressive treatment eventually resulted in normal or near normal muscle strength in seven patients. One patient showed marked improvement. CONCLUSION: Occasionally, patients who clinically present as an idiopathic inflammatory myopathy may lack mononuclear cell infiltrates in their muscle biopsy specimens. This subacute-onset progressive necrotising myopathy should not deter the clinician from timely and appropriate treatment as we consider this myopathy to be steroid-responsive with a possible immune-mediated pathogenesis.

Adult↗
PubMed2003

[Histomorphology of the pharyngoesophageal sphincter as prognostic factor of developing esophageal speech].

Histomorphologic evaluation of the pharyngoesophageal sphincter (pes) in the decreased persons aged 11-82 was done. These persons, in the lifetime, never suffered from: a) neurologic diseases (among others-myasthenia, progressive muscle atrophy), b) neoplasm of the esophagus, c) dysphagia. The aim of the report was the explanation whether the degenerative changes in pes, seen in the course of ageing, should be included into the risk factors of the high pressure occuring in its area after total laryngectomy. The analysis of the histopathological specimens revealed that after 40 years of age connective tissue in the pes is spreading and the number of muscular fibers is decreasing. Till 60 years of age the degenerative process in pes is very differentiated. Some histopathological specimens, in persons of this age section, didn't differ much from those seen in young cases. In the following decades o life degenerative process intensifies successively. In the histopathological specimens intensive proliferation of the fibrotic and fat tissue was found and considerable decrease of muscular fiber number. The investigations on risk factors of high pressure in the area of pes (results made know in paper given for print) revealed that in elder patients after total laryngectomy, its values are higher than in young ones. In patients till 55 years of age, in 72.29% (n = 26/36) of examined cases, the pressure in the pes area didn't exceed 3.99 kPa (30 mmHg). In the age of 55 years and above such a pressure was observed only 39.1% (n = 18/46) of examined. Degenerative changes in pes, depending on age, can be in part of patients (particularly in elder ones) one of the risk factors of the high pressure in the pes area, which should be taken in account in prognosis of esophageal speech mastering by the patient.

Adolescent↗
PubMed1993

Monomelic muscle atrophy.

Two patients with slowly progressive muscle atrophy limited to only one leg are reported. They had pes equinovarus deformity and muscle weakness in the affected leg but no symptom in the other limbs. Muscle biopsies from the affected leg showed dystrophic changes consisting of variation in muscle fiber size, endomysial fibrosis, and necrotic and regenerating fibers. Dystrophin was normally expressed at the surface membrane of the muscle fibers. These two patients possibly had a variant of distal muscular dystrophy, though a neural influence could not be completely excluded.

Biopsy↗
PubMed2005

Chemical genetics and orphan genetic diseases.

Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward understanding the causal molecular pathologies and creating targeted therapies. Chemical genetics, positioned at the interface of chemistry and genetics, can be used for elucidation of molecular mechanisms underlying diseases and for drug discovery. This review discusses recent advances in chemical genetics and how small-molecule tools can be used to study and ultimately treat orphan genetic diseases. We focus here on a case study involving spinal muscular atrophy, a pediatric neurodegenerative disease caused by homozygous deletion of the SMN1 (survival of motor neuron 1) gene.

Drug Design↗
PubMed1992

Molecular genetics and clinical aspects of inherited disorders of nerve and muscle.

Rapid progress has been made in elucidating the molecular genetic basis of several neuromuscular disorders in the past year. Candidate genes have been identified or analysed in hereditary motor and sensory neuropathy (HMSN) type I, X-linked bulbospinal neuronopathy and non-dystrophic myotonic disorders, and further mutations causing amyloidosis have been identified. A familial amyotrophic lateral sclerosis (ALS) locus maps to chromosome 21 in some families, and the chronic childhood spinal muscular atrophy (SMA), facioscapulohumeral muscular dystrophy (FSHD) and malignant hyperthermia loci have been localized more precisely.

Amyloidosis↗
PubMed1978

[Clinico-genalogic characteristics of hereditary diseases of the nervous system in the Kuibyshev region].

The report contains data of a clinico-genealogical analysis of 450 observations of hereditary diseases of the nervous system, and the prevalence rates of neurohereditary diseases in the Kuibyshev region. The authors stress the significance of the founder effect as a factor lying at the basis of a concentration of autosome-dominant forms in some of the areas of the region. The role of increased inbreeding in the enlargement of the amount of autosome-recessive forms is being confirmed. The results of the study denote that in the population of the studied region the group of nervous-muscular hereditary diseases is most frequent. The main neurohereditary diseases are being clinically defined with an indication of the type of hereditary transmission. The authors underline the significant clinical intra- and inter-familial polymorphism of such diseases as the Charcot-Marie-Tooth neuronal amyotrophy, scapulohumeral-facial myopathy of Landusi-Dejenrinne, primary pelvic-humeral progressive muscular dystrophy, autosoma-dominant myatrophic ataxia, myotonic dystrophy. The authors indicate the necessity of a screening of patients with hereditary diseases of the nervous system.

Ataxia↗
PubMed1991

[A case of multiple mononeuropathy associated with pustulosis palmaris et plantaris (PPP)].

A 41-year-old man with PPP since in 1982 was admitted in May, 1987, because of the progressive asymmetric sensory disturbance in the hands and feet over 4 months, accompanied by an exacerbation of PPP. On admission, eruptions of PPP were observed in the palms and soles. Asymmetric and mildly decreased sensations of touch and pain were present in the distal part of the four extremities as well as in his trunk, accompanied by paresthesia and dysesthesia. Mild to moderate weakness was noted in the hand muscles, and slight muscular atrophy was present in the right lower leg. A work-up for collagen vascular disease was within normal limits. T lymphocyte subset showed a decreased ratio of OKT 4/OKT 8. Left sural nerve biopsy showed axonal degeneration and moderate decrease of myelinated fibers, and the vasculitis was not found. The neurological signs and symptoms as well as the skin eruptions improved with methylprednisolone 40 mg/day. A causal relationship between the multiple mononeuropathy and PPP of our patient was indicated by the almost simultaneous onset of the neuropathy and the exacerbation of PPP as well as the improvement of these two conditions with corticosteroid therapy. Such combination of multiple mononeuropathy and PPP has not so far been reported.

Adult↗
PubMed1993

[A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation].

A 35-year-old female was reported who presented early onset and slowly progressive ataxia and retrocollis which appeared at the age of nine. On admission, neurological examination revealed cerebellar ataxia, dystonia of the neck and the right arm, myoclonus of the neck and the shoulder, slight mental retardation, supranuclear upper gaze palsy, and sensorineural hearing loss. Laboratory examination showed high serum CK activity. Electromyography and muscle biopsy findings suggested slight muscular involvement. CSF level of HVA and 5-HIAA were reduced. MRI demonstrated marked cerebellar atrophy and slight atrophy of the brain stem. To our knowledge, the characteristic combination of the neurological sign in this case has not been reported. This case was compared with EOCA (early onset cerebellar ataxia with retained tendon reflexes) and other juvenile onset cerebellar ataxia and dystonia.

Adult↗
PubMedDate not supplied

Spinal deformities in patients with spinal muscle atrophy: a review of 36 patients.

Thirty-six patients diagnosed as having spinal muscle atrophy were reviewed. The process was usually recognized in infancy, and spinal deformity commonly developed by age 6, kyphosis developed before age 3, and scoliosis or kyphoscoliosis thereafter. Orthotics may slow progression in most cases, but very young patients must be carefully monitored for chest-wall deformity. Surgery was utilized to stabilize orthotically uncontrollable curves, orthotically controlled curves after maturation, and the severely involved when risks were acceptable. Complications were noted in older or more deformed patients and less frequently in younger, less involved ones. A stabilized spine with head centered over pelvis was usually achieved.

Adolescent↗
PubMedDate not supplied

Juvenile diabetic cheiroarthropathy.

A peculiar involvement of the interphalangeal joints of both hands with palmar flexion of the fingers has been observed in 11 insulin-treated, nonrheumatoid, juvenile diabetics. The onset of diabetes occurred between 1 and 12 years of age. Painless deformities of the fingers with progressive stiffness and impaired extension started 4 to 10 years later. One patient complained of articular pain and swelling. X-ray and circulatory changes were absent or minimal. Prepubertal patients showed delayed puberty and stunted growth, adult patients had normal sexual development. Rheumatic or rheumatoid signs were absent. Electromyography showed minor abnormalities of the motor units, normal or subnormal motor nerve conduction velocity, increased median nerve terminal latency, in the absence of muscular atrophy or thickening of palmar tendons. Vibratory sensitivity was impaired in 1 subject. Juvenile cheiroarthropathy is associated with: a) early onset and poor control of diabetes; b) stunted growth; c) hepatomegaly; d) delayed puberty; e) long standing administration of insulin. The articular changes are distinct from previously known forms of "diabetic hand", such as atrophic neuropathy, osteoarthropathy, Dupuytren's contracture, carpal tunnel syndrome.

Adolescent↗
PubMedDate not supplied

Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case.

A 2-month-old male baby was admitted to our hospital with episodic cyanosis and respiratory failure which required mechanical ventilation. He was found to have upper limb flexion rigidity and poor weight gain since one month old. Progressive muscle stiffness over the abdomen, chest wall, back and four limbs were also noted. He could not be weaned from the ventilator smoothly due to recurrent CO2 retention. Laboratory tests revealed a high serum creatine kinase level. Cytoplasmic body myopathy was confirmed by muscle biopsy. The unusual initial presentations of generalized stiffness and early onset of respiratory failure were quite different from those of patients reported in the literature, who had floppiness, muscular atrophy and weakness. Prednisolone and Vigabatrin were given and the patient showed slight improvement in muscle stiffness and spontaneous movement.

Humans↗
PubMed1993

Ageing and human muscle: observations from Sweden.

The purposes of this review are to summarize studies of cross-sections of autopsied whole muscles from previously physically healthy males and to focus on the cause of the ageing atrophy. The ageing atrophy begins around 25 years of age and thereafter accelerates. This is caused mainly by a loss of muscle fibres, and to a lesser extent by a reduction in fibre size, mostly of the proportion of the fibre area in the muscle cross-section occupied by type 2 (fast-twitch) fibres. In muscle from old subjects, there is a significant increase in the number of enclosed fibres, indicating an increased incidence of fibre type grouping, a loss of motor neurons in the spinal cord, and a reduction in the number of functioning motor units. These findings strongly suggest a combination of a progressive denervation process and an altered physical activity level as the two major mechanisms underlying the effects of normal ageing on human muscle. These changes have obvious implications for old individuals and their participation in physical activity and in sports, which must be accommodated in rehabilitation regimes or in training programmes.

Adolescent↗
PubMed1985

Myopathies due to enzyme deficiencies.

After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.

Adult↗
PubMed2004

Mild dystrophic damage in the androgen-sensitive levator ani muscle of the mdx mouse.

The time course of muscular dystrophy on the androgen-sensitive levator ani muscle was compared to that of the diaphragm of dystrophic (mdx) mice aged 1-20 months. Muscle growth, isometric contractile properties and caffeine-induced contractures were determined to assess the hormone myotrophic effect, muscle strength and sarcoplasmic reticulum function, respectively, of both control and dystrophic muscles. Histological analysis of mdx muscles showed variable fiber size, centronucleated cells, infiltration of connective tissue, and necrosis which was less severe in the levator ani than in the diaphragm muscle. Tetanic tension per unit weight in the mdx levator ani was reduced (29%) after aging, while the contraction time remained unchanged. The tetanic tension of the mdx diaphragm muscle decreased with age from 3 to 20 months (20-64%), and the relaxation time was prolonged after aging (22%). Gonadectomy of young adult mdx mice caused atrophy of the levator ani muscle, accelerated muscle wasting, reduced the tetanic force (31%), but it did not affect the contraction time and caffeine responses. The results showed that testosterone does not prevent the progress of muscle disease in the mdx levator ani, but androgen withdrawal accelerates muscle wasting suggesting a normonal beneficial effect.

Age Factors↗
PubMed1988

Multifocal acquired demyelinating neuropathy masquerading as motor neuron disease.

We report five patients with pure motor neuropathy characterized by multifocal weakness, muscle atrophy that was sometimes profound, cramps, and fasciculations with relatively preserved reflexes. The clinical picture led to an initial diagnosis of motor neuron disease in all cases, but nerve conduction studies revealed multifocal conduction block confined to motor axons and predominantly involving proximal nerve segments. Routine sensory nerve conduction studies, ascending compound nerve action potentials, and somatosensory evoked potentials were all normal even through nerve segments in which motor conduction was severely blocked. Onset of symptoms was insidious, and progression was indolent. In two cases, after many years of neuropathy, sensory abnormalities developed but remained clinically trivial. These unusual cases probably have the same pathogenesis as previously described patients with persistent multifocal conduction block. Distinction from motor neuron disease is critical, since chronic demyelinating neuropathy may respond to treatment.

Action Potentials↗
PubMed2003

[Solitary tumorous muscular sarcoidosis (granulomatous myopathy) of the forearm extensors].

INTRODUCTION: Besides the lung and hilar lymph nodes, sarcoidosis may affect almost every other organ. Under the aspect of histology, non-caseating granulomas are normally found in sarcoidosis but also appear in connection with other diseases. Therefore some authors prefer the definition "granulomatous myopathy" in the case of solitary muscular affection as long as sarcoidosis is not found in at least two other organs. Others, however, speak of "solitary muscular sarcoidosis", if any other origin can be excluded. CASE REPORT: A 20-year old man mentioned a painless swelling in his left forearm. During a 6-year follow-up, intermittent growth with long intervals of inactivity could be ascertained. The diagnosis was supported by two biopsies within three years. Under oral therapy with prednisone the tumor decreased evidently. REVIEW OF LITERATURE: Out of 61 cases of tumorous sarcoid myopathy described in literature, only 9 lesions appeared in just one location. Three of these 9 showed no evidence of disease in other organs and referred to lower limbs of Japanese. As far as we know a unilocular solitary tumorous sarcoid myopathy of the upper limb has not yet been described. CONCLUSION: The tumorous sarcoid myopathy is mainly located between the muscle fibers. Therefore paralysis, atrophy and contracture is rarely discovered in this kind of sarcoid myopathy. It shows a slow "stop-and-go" progress and may spontaneously go in remission. The expected success of therapy is therefore to be carefully considered in every incidence in view of side-effects. Oral prednisone with an initial dose of 1mg per kg body weight per day seems to be the most effective therapy. A moderate dose reduction prevents recurrence.

Adult↗
PubMed2005

Molecular determinants of skeletal muscle mass: getting the "AKT" together.

Skeletal muscle is the most abundant tissue in the human body and its normal physiology plays a fundamental role in health and disease. During many disease states, a dramatic loss of skeletal muscle mass (atrophy) is observed. In contrast, physical exercise is capable of producing significant increases in muscle mass (hypertrophy). Maintenance of skeletal muscle mass is often viewed as the net result of the balance between two separate processes, namely protein synthesis and protein degradation. However, these two biochemical processes are not occurring independent of each other but they rather appear to be finely coordinated by a web of intricate signaling networks. Such signaling networks are in charge of executing environmental and cellular cues that will ultimate determine whether muscle proteins are synthesized or degraded. In this review, recent findings are discussed demonstrating that the AKT1/FOXOs/Atrogin-1(MAFbx)/MuRF1 signaling network plays an important role in the progression of skeletal muscle atrophy. These novel findings highlight an important mechanism that coordinates the activation of the protein synthesis machinery with the activation of a genetic program responsible for the degradation of muscle proteins during skeletal muscle atrophy.

Cell Nucleus↗
PubMed1993

Motor conduction block and high titres of anti-GM1 ganglioside antibodies: pathological evidence of a motor neuropathy in a patient with lower motor neuron syndrome.

A patient with a progressive lower motor neuron syndrome and neurophysiological evidence of motor axon loss, multifocal proximal motor nerve conduction block, and high titres of anti-ganglioside GM1 antibodies. Neuropathological findings included a predominantly proximal motor radiculoneuropathy with multifocal IgG and IgM deposits on nerve fibres associated with a loss of spinal motor neurons. These findings support an autoimmune origin of this lower motor neuron syndrome with retrograde degeneration of spinal motor neurons and severe neurogenic muscular atrophy.

Aged↗