SEARCH · PubMed Health

Results for “Muscular Atrophy”

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 19 recordsLinked to original sources

PubMed1979

Hereditary canine spinal muscular atrophy.

Hereditary canine spinal muscular atrophy is a newly recognized motor neuron disease occurring in Brittany Spaniels. The clinical manifestations, pattern of inheritance, electrodiagnostic findings, and muscle biopsies have features in common with human spinal muscular atrophy. Neuropathological examination discloses some loss of motor neurons in the spinal cord and brainstem. Many of the surviving motor neurons have neurofibrillary swellings in proximal axons, an abnormality similar to that which occurs early in the course of human amyotrophic lateral sclerosis. These axonal swellings are filled with maloriented skeins of neurofilaments. Since the proteins comprising neurofilaments are carried by slow axonal transport, their accumulation within axons suggest that the swellings may result from impaired slow transport, a hypothesis that can be tested in affected Brittany Spaniels. Hereditary canine spinal muscular atrophy is a new genetic, clinical, and pathological entity, and, at present, it appears to be the best currently available animal model of motor neuron disease.

Animals↗

PubMed1979

Blood selenium in chronic spinal muscular atrophy.

The spinal muscular atrophies (SMA) of childhood comprise the second most common fatal recessive disease after cystic fibrosis, yet the nature of the biochemical defect causing the anterior horn cell degeneration is totally unknown. Recent reports of a cluster of adult motor neurone disease cases from a high seleniferous area in South Dakota have prompted the study of blood selenium in children with SMA in Australia. Eight children with chronic SMA were tested, in addition to 9 obligate heterozygote carriers of the gene. Blood selenium levels of patients and carriers did not differ significantly from that observed in controls. The mammalian effects of selenium toxicity are discussed.

Adolescent↗

PubMed1976

Chronic spinal muscular atrophy of facioscapulohumeral type.

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.

Action Potentials↗

PubMed1975

Sensory system involvement in infantile spinal muscular atrophy.

Nine cases of infantile spinal muscular atrophy were studied post-mortem. Their ages at death ranged from 5 months to 10 years. In all cases severe loss of anterior horn cells in the spinal cord and neurogenic muscular atrophy were characteristic of this disease. In 6 cases there was also loss of myelin in the posterior columns particularly affecting the lumbar contribution. Sensory ganglia, especially from the lumbar region, contained nodules of Nageotte, indicating sensory neuron degeneration. These sensory abnormalities were more severe in the longer surviving cases. It seems possible that sensory neuron degeneration occurs more commonly in Werdnig-Hoffmann disease than has previously been supposed but that it is less severe and develops more slowly than motor neuron degeneration.

Anterior Horn Cells↗

PubMed2026

Multi-Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis.

Most spinal muscular atrophy (SMA) patients develop severe scoliosis by late adolescence. Given that the paraspinal muscles-particularly the multifidus-are indispensable for maintaining spinal stability, their site-specific multi-omics characteristics in SMA remain insufficiently defined. Herein, integrated multi-omics sequencing was performed on bilateral multifidus samples from SMA patients and surgical controls. We identified 5219 differentially expressed genes, 1063 differentially expressed proteins and 370 differential metabolites between the control and SMA, showing significant enrichment in glucose and amino acid metabolism pathways, specifically key steps of glycolysis/gluconeogenesis. Key enzymes in the glycolytic process such as PFKM, ENO3 and PKM1 were markedly downregulated. Notably, a comparative analysis of the bilateral paraspinal muscles in SMA revealed asymmetrical metabolic signatures in carbohydrate and amino acid processing between the concave and convex sides. Key regulatory enzymes exhibited significant differential expression: PYGL, a central driver of starch and sucrose metabolism; creatine kinase, involved in arginine and proline metabolism; and PGAM2, a key mediator of glycine, serine, and threonine metabolism. These metabolic signatures indicate a complex metabolic reprogramming in the multifidus, where asymmetric disparities point to the influence of mechanical loading, while systemic dysregulation aligns with the effects of SMN depletion.

Humans↗

PubMed1976

Isoelectric focusing and electrophoresis of cerebrospinal fluid proteins in muscular dystrophies and spinal muscular atrophies.

In the very few previous investigations of the CSF-proteins in muscular dystrophies the results have generally been reported as normal. In spinal muscular atrophies a barrier-damage pattern of CSF-proteins has been found in amyotrophic lateral sclerosis (ALS). In the present investigation the CSF-proteins were examined by isoelectric focusing and quantitative paper electrophoresis in 13 patients with muscular dystrophies and in 11 patients with spinal muscular atrophies. On isoelectric focusing, CSF-protein abnormalities were found in 85% of the cases with muscular dystrophies and in all patients with spinal muscular atrophies. Differences in the CSF-protein patterns were observed within the group of muscular dystrophies and between these and the cases of spinal muscular atrophies. In ALS and in myotonic dystrophy, abnormal CSF-protein fractions occurred mainly in the alkaline pH-range, while in limb-girdle dystrophy and the patient with facioscapulohumeral dystrophy, aberrant fractions appeared mainly in the acidic region. CSF-protein abnormalities were found in both the alkaline fractions (HAFs) with pI 9.2-9.6 and a fraction with PI 7.1 were found in half of the patients with myotonic dystrophy. The CSF electrophoresis in myotonic dystrophy showed increased levels of beta1-globulin in all cases examined. Signs of barrier-damage were commonly encountered in ALS in contrast to the muscular dystrophies, except for myotonic dystrophy. The results are discussed in terms of possible diagnostic value and with regard to pathogenetic significance, particularly in relation to the current hypothesis of a neural involvement in muscular disorders.

Adult↗

PubMed1975

A clinical and genetic study of chronic proximal spinal muscular atrophy.

A study of chronic proximal spinal muscular atrophy was undertaken with the main aim of obtaining empirical recurrence risks for genetic counselling. Thirty-eight patients and their families were studied. Of these, 33 had similar clinical features and onset of disease in infancy or childhood. A division of these 33 patients by onset before or after 2 years (which was equivalent to whether or not they ever walked normally) gave recurrence risks for sibs which were higher with early onset. Among the sibs of patients with onset before 2 years, the incidence of disease was 1 in 5, due to most patients having an autosomal recessive disorder. A few patients, however, were thought to represent new dominant mutations. Among the families of index patients with onset after 2 years, the incidence of disease in sibs was only 1 in 15, but among their children it as 1 in 8. Both autosomal recessive and autosomal dominant forms therefore occurred in this age group, but it was concluded that nearly half the patients with onset after 2 had non-genetic motor neuron disease. The autosomal recessive form of chronic spinal muscular atrophy generally had onset before 2 years, but occasionally after 2. About a third of the patients never walked, and about half were in wheelchairs by age 10. No genetic heterogeneity within this form was demonstrated. Three remaining patients had distinctive clinical features associated with their proximal weakness, external ophthalmoplegia in one, dysarthria in another, and joint contractures in a third. Only 2 patients had onset in adult life, one of a probable recessive disorder and the other a probable dominant disorder.

Age Factors↗

PubMed1977

Chronic spinal muscular atrophy simulating facioscapulohumeral type and limb-girdle type of muscular dystrophy. Report of two cases.

Two cases of chronic spinal muscular atrophy simulating the clinical picture of the facioscapulohumeral type and limb-girdle type of muscular dystrophy are reported. Both patients had a waddling gait, Gowers' maneuver in arising, terminal atrophies and pseudohypertrophies of some muscles, marked fasciculations, and fascicular tremor. The electromyogram revealed signs of anterior horn cell disease. Calf muscle biopsy (case 2) revealed 'myopathic' changes.

Chronic Disease↗

PubMed1976

[Clinical electrodiagnostic findings in peroneal muscular atrophy (author's transl)].

43 patients and 27 relatives suffering from a hypertrophic type of peroneal muscular atrophy have been examined. Following the classification of peroneal muscular atrophy by Dyck and Lambert early age of onset and considerable reduction of nerve conduction velocity served as criteria for allotting them to the hypertrophic type. In all patients a typical deformity of the foot developed before the age of 10. Among the relatives there were some without this deformity and with only slight clinical signs. Assessing consistency and thickness of peripheral nerves by palpation proved difficult and unreliable. These findings also varied considerably between members of one family. The motor nerve conduction velocity was less than one half of the normal on average. Even those patients with only minor clinical signs had a nerve conduction velocity reduced by one fifth. In about 60% of the patients there was dominant inheritance, in 3 it was recessive and in about one third nothing was known. 10 of the patients without dominant inheritance had rather severe neurologic disturbance and a kyphoscoliosis. Whether this is hypertrophic neuritis of Dejerine und Sottas is discussed. Data form the literature differ. Another common type of peroneal muscular atrophy is the neuronal type. In contrast to the hypertrophic type it generally begins in adults and nerve conduction velocity is hardly affected.

Adolescent↗

PubMed2026

A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.

Spinal muscular atrophy with congenital bone fractures type 2 (SMABF2) is an ultra-rare neuromuscular disorder caused by pathogenic variants affecting the ASC-1 complex, most commonly ASCC1. The disorder is typically characterized by severe congenital hypotonia, prenatal or congenital fractures, and early respiratory failure. We report a girl with a novel homozygous intronic donor-site variant, c.95+5G>C, in ASCC1. In contrast to the classic SMABF2 phenotype, she had no congenital fractures and survived until 7 years of age. Her clinical presentation included generalized hypotonia, areflexia, minimal spontaneous movements, dysmorphic features related to fetal hypomobility, progressive respiratory insufficiency requiring tracheostomy and gastrostomy, and cardiac involvement. This case expands both the genetic and phenotypic spectrum of ASCC1-associated disease. The comparatively prolonged survival and absence of congenital fractures suggest that not all ASCC1 variants result in a fully loss-of-function phenotype. However, this interpretation remains hypothetical because functional RNA studies were not performed.

Humans↗

PubMed1992

Medical therapy in spinal muscular atrophy: a realistic expectation?

The hereditary spinal muscular atrophies (SMA) type I-III belong to those diseases for which even the thought of medical therapy seems forbidden. Two neurotrophic factors are, however, now known to exert a markedly stimulating effect on survival of motor neurons in vivo! In principle such factors may become available by recombinant DNA techniques for experiments in animal models of SMA and if these experiments are successful for clinical trials in man. Medical therapy in SMA should aim primarily at patients early in the rapidly progressive phase of their disease, before massive loss of motoneuron has taken place.

Adrenocorticotropic Hormone↗

PubMed1992

[Cervical root avulsion presenting proximal segmental muscular atrophy of unilateral upper extremity].

A 56-year-old woman noticed non-progressive weakness in the proximal part of the right upper extremity from her childhood. At the age of 37 years, she was diagnosed as "spinal muscular atrophy" by an orthopedic surgeon. At the age of 56, neurological examinations revealed muscular atrophy and weakness confined to the right deltoid, biceps brachii and brachioradialis together with minor sensory disturbance in the lateral side of the right shoulder and forearm without pyramidal sign in the lower extremities. The neurological features of this case differed from those of juvenile type of distal and segmental muscular atrophy of upper extremities in distribution of muscular atrophy, and simulated those of cervical spondylotic amyotrophy. Myelography demonstrated root avulsion of the right C5 and C6 roots. CT myelography revealed traumatic meningocele. Therefore a clinical diagnosis of cervical root avulsion resulting from unrecognized birth injury was made. The reason of motor dominant pictures of this case may be vulnerability of the anterior nerve roots to traction injury.

Arm↗

PubMed1978

Segregation analysis of chronic childhood spinal muscular atrophy.

A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families. Ascertainment of index patients was by incomplete multiple selection. Three types of segregation analysis were performed: Weinberg Proband, an improved Weinberg Proband with a variance corrected formula for differences both in family size and ascertainment probability and a backeting technique assuming the extremes of both single and of truncate selection. All three methods gave similar results. The improved Weinberg Proband method with corrections for differences in ascertainment and in family size gave a segregation ratio of 0.18 and a 95% confidence range of 0.11 to 0.25. The mid-point of the bracketing method assuming extremes of truncate and of single selection was 0.19. The segregation ratio of that group of children with clinical onset before 9 months of age was 0.21, which does not differ significantly from the 0.25 predicted on the basis of autosomal recessivity. Evidence is presented to indicate that 25% of index patients may be due to new dominant mutations, or phenocopies, or both, and that these occur particularly among sporadic cases with clinical onset over 2 years of age. Empirical risk figures for use in genetic counselling are presented, and the literature of the subject is reviewed.

Child, Preschool↗

PubMed1978

Juvenile type of distal and segmental muscular atrophy of upper extremities.

Seventy-one cases of distal and segmental muscular atrophy of the upper extremities with juvenile onset were studied. The clinical features consisted of: juvenile onset, male preponderance, unique distribution of the muscular atrophy in the hand and forearm, tendon reflexes hypoactive in most cases but hyperactive in some, no definite sensory disturbances, no involvement of the cranial nerves, and autonomic nerve disorders in the affected region. There was rapid progression during the 2 to 3 years after onset with a slowly progressive course thereafter. There were no abnormal laboratory findings except for electrophysiological and morphological findings of the affected muscles. The site of lesion was surmised to be from the C5 to T1 spinal segments with intramedullary involvement. The cause is unknown.

Adolescent↗

PubMed1978

Autosomal dominant spinal muscular atrophy: a clinical and genetic study.

A clinical and genetic study of 6 kindreds (13 patients) with autosomal dominant spinal muscular atrophy is presented. Evidence is presented to indicate that two separate autosomal dominant genes are involved. One of these causes clinical disease with onset in early childhood (birth--8 years), which is relatively benign and in which proximal selectively of muscle involvement is not marked. A separate autosomal dominant gene causes a disease with onset in adult life (median age 37 years), showing marked initial proximal selectively; this disease may be more rapid in its clinical progression. Penetrance of both genes approaches 100%. Incidence figures are presented; less than 2% of all cases of childhood onset spinal muscular atrophy, but 30% of adult onset cases, are due to an autosomal dominant gene transmitted from an affected parent. Implications for prognosis, diagnosis and genetic counselling are discussed. A review of 11 kindreds of dominant spinal muscular atrophy in the literature is presented.

Adolescent↗

PubMed1979

[Juvenile, non-progressive muscular atrophy localized in the hand and forearm. Report of 16 cases (author's transl)].

Sixteen cases of juvenile, non-progressive muscular atrophy localized in the hand and forearm were seen at our neurology out-patient clinic for the past 8 years. The analyses of these 16 cases disclosed characteristic features as follows: 1) juvenile onset 2) male preponderance 3) unique distribution of muscular atrophy and weakness in the hand and forearm. 4) insidious onset, initial progressive period and subsequent non-progressive course 5) tendon reflexes of the arms are hypoactive in half of the cases 6) no pathological reflexes 7) cold paresis 8) no definite sensory disturbance 9) no cranial nerve involvement 10) neurogenic patterns on EMG According to these features, this clinical entity carrying good prognosis must be differentiated from several diseases associated with similar muscular atrophy of extremities, especially amyotrophic lateral sclerosis which is notorious as a fetal disease.

Adolescent↗

PubMed1976

Clinical observations of juvenile nonprogressive muscular atrophy localized in hand and forearm.

Twenty-seven patients with juvenile nonprogressive muscular atrophy localized in the hand and forearm were analyzed. The clinical characteristics were juvenile male occurrence, insidious onset, specific distribution of localized muscular atrophy and a stationary course. On electromyography, denervation voltage (or giant NMU) is found in the atrophied muscles and sometimes in contralateral nonatrophied ones. Sensory disturbance was not remarkable. Although the etiological factor was not known, strenuous exercise of arms in sports was noted frequently in the history.

Adolescent↗

PubMed1976

Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy.

A material of 247 cases selected from 260 cases of spinal muscular atrophy in the Warsaw Department of Neurology in 1960-1974 was analyzed. The size of sibships was established and calculations were made of the mean distribution of the age at onset, also according to sex, for the different clinical forms, genetical proportions by the method of siblings and of probands, and coefficient of sib-sib correlation for the material as a whole and separately for males, females and male-female pairs. The analysis shows the course of the disease to differ between the sexes and to be mild in males more often than in females, as is particularly noticeable in the higher age groups. Cases of Kugelberg-Welander's disease are predominantly male. The hypothesis is advanced that a proportion of male patients have a sex-linked modifying gene of a fairly high frequency (possibly of the range of 1 in 5 males, and 1 in 25, in the homozygous state, in females). Although it would not disprove conclusively the nosological distinctness of different forms of infantile and juvenile spinal muscular atrophy, the existence of the modifying gene, if proved, would tend rather to add to the likelihood of their constituting a single recessive autosomal disease.

Adolescent↗