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At least 1,513 records · Page 84Linked to original sources
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↗
PubMed1999

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

Charcot-Marie-Tooth (CMT) disease is a progressive neuropathy of the peripheral nervous system, typically characterized by muscle weakness of the distal limbs. CMT is noted for its genetic heterogeneity, with four distinct loci already identified for the axonal form of the disease (CMT2). In 1996, linkage analysis of a single large family revealed the presence of a CMT2 locus on chromosome 7p14 (designated CMT2D). Additional families have been linked subsequently to the same genomic region, including one with distal spinal muscular atrophy (dSMA) and one with mixed features of dSMA and CMT2; symptoms in both of these latter families closely resemble those seen in the original CMT2D family. There is thus a distinct possibility that CMT2 and dSMA encountered in these families reflect allelic heterogeneity at a single chromosome 7 locus. In the study reported here, we have performed more detailed linkage analysis of the original CMT2D family based on new knowledge of the physical locations of various genetic markers. The region containing the CMT2D gene, as defined by the original family, overlaps with those defined by at least two other families with CMT2 and/or dSMA symptoms. Both yeast artificial chromosome (YAC) and bacterial clone-based [bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC)] contig maps spanning approximately 3.4 Mb have been assembled across the combined CMT2D critical region, with the latter providing suitable clones for systematic sequencing of the interval. Preliminary analyses have already revealed at least 28 candidate genes and expressed-sequence tags (ESTs). The mapping information reported here in conjunction with the evolving sequence data should expedite the identification of the CMT2D/dSMA gene or genes.

Bacteriophage P1↗
PubMed2006

Dissociated small hand muscle atrophy in aging: the 'senile hand' is a split hand.

The term 'split hand' refers to a pattern of dissociated atrophy of hand muscles and was first described in ALS. We hypothesize that this phenomenon also occurs in 'normal' aging. We investigated healthy subjects of different ages and found a progressive dissociation in atrophy of the hand muscles, as measured with compound muscle action potential amplitudes, with increasing age. Different possible causes of this progressive dissociation are discussed. It might be related to preferential use of thenar muscles in humans, which render these muscles and their motor neurons more susceptible to oxidative stress. In addition, a difference in intrinsic susceptibility to oxidative stress might be involved. The relation between normal age-related muscle loss (sarcopenia) and the pathologic loss in motor neuron disease is discussed.

Adolescent↗
PubMed1981

Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.

Four members of a family with scapuloperoneal syndrome were examined and investigated. The pattern of inheritance was autosomal dominant and the myopathic basis of the muscle atrophy was established by histological studies of muscle and spinal cord. The family illustrates an unusual combination of features which appear to be distinct from those of other families with myopathic scapuloperoneal syndrome and autosomal dominant inheritance. These include early age of onset and rapid progression in most cases; occurrence of early muscle contractures; and a high incidence of severe cardiomyopathy in three of the four cases. Some of these features resemble those seen in the x-linked form of the disease and the present family appeared to be a new variant of the autosomal dominant form of the scapuloperoneal syndrome.

Adult↗
PubMed1975

Dysplasia of the quadriceps mechanism: hypoplasia of the vastus medialis muscle as related to the hypermobile patella syndrome.

Disturbance of the patellofemoral mechanism is the most common cause of dysfunction in the knee, especially in athletes of all age groups. This is primarily a congenital familial abnormality due to poor development in the vastus medialis. The patella develops in the line of maximum pull of this muscle group; in this congenital condition it develops in line with the stronger antagonist to the vastus medialis, the vastus lateralis muscle. Therefore, the position in the extremity that the patella assumes is the result of abnormal muscle development. This brings about other changes in the lower extremity that increase the tendency of the patella to migrate laterally. This condition, hypoplasia of the vastus medialis muscle, exists in a large number of people (about 40% of my patient population) in an asymptomatic form that predisposes them to degenerative changes of the patellofemoral articulation later in life, even without symptoms related to dysfunction of the patellofemoral mechanism. These individuals are also predisposed to disturbances of the patellofemoral mechanism which may cause symptoms, that is, the painful knee for which they seek medical attention. The symptomatic types of dysplasia of the quadriceps mechanism are usually brought on by injury to the medical quadriceps retinaculum that stretches or tears it, allowing the lateral migration to increase and producing pain in the inner aspect of the knee. Disuse atrophy of the vastus medialis accentuates the clinical picture as the condition worsens. As the asymptomatic type may progress into the midly symptomatic variant and eacy may worsen into a more serious disabling variety as reinjury occurs, it is important to recognize each type and to treat them properly.

Humans↗
PubMed2005

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisystem disorders characterized by defective glycoprotein biosynthesis. In the present study we report and discuss the clinical and neuropathological findings in a newborn with CDG type Ia (CDG-Ia). The patient presented mild dysmorphic facial features, inverted nipples, progressive generalized edema, hypertrophic cardiomyopathy, hepatosplenomegaly, muscular hypotonia and had severe hypoalbuminemia. Deficiency of phosphomannomutase (PMM)-2 activity was detected. Molecular analysis showed V231M/T237R mutations of the PMM2 gene. Muscular biopsy, disclosed myopathic alterations with myofibrillar disarray by electron microscopy. The patient died at 1 month of age of circulatory and respiratory failure. Autopsy showed liver fibrosis and renal abnormalities. Neuropathological abnormalities were mainly confined to the cerebellum. Histological and immunocytochemical examination of cerebellar tissue showed partial atrophy of cerebellar folia with severe loss of Purkinje cells, granular cell depletion and various morphological changes in the remaining Purkinje cells and their dendritic arborization. Autopsy findings confirm the complexity of the CDG-Ia syndrome, and indicate that CDG-Ia is a distinct disease entity, which can be differentiated from other neurological disorders and other types of CDG, not only clinically, but also based on unique pathological findings. The data proved useful in determining the underlying disease process associated with a defective N-glycosylation pathway.

Arginine↗
PubMed2002

Acute local nerve lesions induced by Bothrops jararacussu snake venom.

Myonecrosis is one of the most common effects of Bothrops jararacussu venom, but little is known about the action of this venom on other tissues. In this study, we used transmission electron microscopy to examine the influence of B. jararacussu venom on nerve tissue. A sublethal dose of venom (80 microg) was injected into the tibialis anterior muscle of mice which were then killed at various intervals up to 6 h after venom injection. The venom caused massive, progressive axonal damage beginning 2 min after inoculation and after 6 h, all intramuscular nerve bundles were completely depleted of nerve fibers. The most striking finding was myelin breakdown. The ultrastructural changes observed and the time course of the nerve lesions indicated that B. jararacussu venom acted directly on nerve tissue, possibly on the phospholipids of the myelin sheath. The axonal damage reported here may be of relevance to explain, at least in part, the muscular atrophy and poor recovery in muscle function seen in human and experimental envenomations.

Animals↗
PubMed1985

The long-term results of the surgical management of paralytic pes cavus by soft tissue release and tendon transfer.

Twenty-six patients with paralytic pes cavus were managed by early soft tissue correction and tendon transfer. Eighteen had spina bifida, 6 had peroneal muscular atrophy and two had cerebral palsy. The most frequent operations were flexor hallucis longus tenodesis, Girdlestone's flexor to extensor tendon transfer and plantar release. The indications for these procedures are discussed and the results presented, with particular reference to static and dynamic foot pressure studies performed at review. Follow-up averaged 5.2 years. Toe correction was found to be successful in most cases but plantar release failed in 55% of feet, with many progressing to fusion. Many failed feet had presented at an earlier age and it was felt that the initial procedures had delayed the need for bony correction thus minimising growth disturbance.

Adolescent↗
PubMedDate not supplied

[Neurodegeneration with brain iron accumulation, type-I (NBIA-I) (formerly Hallervorden-Spatz, disease). Par I: clinical manifestation and treatment].

This is a rare syndrome, most likely of several genetically determined neurodegenerative disorders with similar pathogenesis. Two forms of the disease are distinguished: familial occurring in about 50% of cases and sporadic with about 15% of cases in which parental consanguinity is found. Clinically, NBIA-1 is characterised by a slow progression of extrapyramidal symptoms and progressive dementia, mostly in children. Relentlessly progressive course is obvious, but the progress may be very slow, taking sometimes several dozen of years. Four subtypes of the disease have been thus far distinguished: early childhood, late childhood, adult onset and with protracted course. The clinical diagnosis of NBIA-1 is only probable because specific abnormalities have not as yet been detected in laboratory investigations. However, NBIA-1 should be suspected, if extrapyramidal symptoms are observed, such as dystonia, choreoathetosis, muscular rigidity, moreover dementia, retinal degeneration and/or optic nerve atrophy and characteristic magnetic resonance imaging (so called "the eye-of-the tiger" sign). At present, only comprehensive symptomatic treatment is possible.

Adult↗
PubMedDate not supplied

Becker-type muscular dystrophy.

This is a review of clinical, cardiologic, electrophysiologic, pathologic, and serum creatine kinase changes in eight families with slowly progressive X-linked Becker-type muscular dystrophy. All but one of the patients were able to walk until the age of 16 years, and most lived beyond 20. In every family, electromyography and muscle biopsy showed features which, on the basis of classical criteria, were interpreted as those of both myopathy and denervation, although among patients and among families, one or the other of these processes predominated. The most frequent biopsy picture was of fiber atrophy and hypertrophy, with many split and angulated fibers, and clumps of pyknotic nuclei. Necrosis, phagocytosis, regeneration, endomysial fibrosis, and some fatty infiltration were commonly seen. Review of a family originally described by Becker showed a similar biopsy picture; These pathologic changes are separable from those of Duchenne muscular dystrophy, but they often overlap with those seen in other chronic neuromuscular diseases.

Adolescent↗
PubMed1984

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.

A woman, aged 75 years, presented with a 15-year history of progressive, generalized, painful muscle weakness and wasting. Clinical and laboratory investigation revealed a sporadic muscle disorder. Muscle biopsy showed a mixed pattern of nemaline myopathy with minicores and central cores and severe atrophy of type-1 and type-2 fibers. A trial of immunosuppressive treatment did not improve her condition, which clinically mimicked chronic progressive polymyositis. Mixed myofibrillar myopathies of this type have so far only been described among the group of congenital myopathies.

Age Factors↗
PubMed1984

A childhood form of Huntington's disease associated with marked pyramidal signs.

The case of a childhood form of Huntington's disease in a 9-year-old boy is reported. The patient had complaints of generalized convulsions from the age of 4, and progressive motor disabilities and mental deterioration from the age of 6. His father had suffered from Huntington's disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement, muscular rigidity or ataxia. Axial computed tomography showed marked dilatation of the frontal horns and suggested caudate atrophy. This case is atypical of a childhood form of Huntington's disease because of the lack of muscular rigidity and choreiform movement. But computed tomographic findings correspond to that typically seen in cases of adult Huntington's disease.

Age Factors↗
PubMed2006

[Amyotrophic lateral sclerosis that begins with voice and deglution alterations].

Amyotrophic lateral sclerosis is a progressive degenerative neuromuscular disease of insidious onset. It involves upper and lower motor neurons and causes both spastic and atrophic muscular symptoms. More than one fourth of patients have complaints relating to the head and neck (bulbar palsy); thus, the otolaryngologist may be the first physician to see them. In bulbar forms of Amyotrophic Lateral Sclerosis, voice and/or swallowing difficulties are often the initial signs of disturbance. Predominant symptoms are slurred speech, hoarseness, dysphagia, and dyspnea. Muscular weakness, atrophy, and fasciculation are noted on examination. We show a case and revise bibliography.

Amyotrophic Lateral Sclerosis↗
PubMedDate not supplied

[Alterations in functional proteins. Calpaine-3 deficiency].

INTRODUCTION: Muscular dystrophies due to calpain deficiency are the first example of a muscular dystrophy due to the mutation of a gene codifying for a non-structural enzymatic protein of unknown function and substrate. DEVELOPMENT: More than 70 mutations have been described in the gene structure, localized to chromosome 15. Although the time course and topography is fairly homogeneous, correlation between the different mutations and the phenotype has still to be analyzed. The age of onset of symptoms is usually between 8 and 14, with no difference between the sexes. There is a slow but uniformly progressive course starting in the pelvis and extending to the shoulder and the distal musculature. Almost all patients are confined to a wheelchair twenty years after onset of the disease. There is no facial, oculomotor or bulbar involvement and gemellar pseudohypertrophy is rare. However, a winged scapula and marked lumbar hyperlordosis is universal. No cardiac or cognitive changes have been observed. Muscle CT shows a pattern of atrophy, mainly of the posterior and medial muscle compartments and of the posterosuperficial group of the legs, which varies depending on the time the disorder has been present. This condition is the commonest etiological group of the dystrophy syndromes, especially of those of late infancy or juvenile onset, in the open populations studied to date. Muscle biopsy, stained by all methods available, is essential to rule out other types of progressive dystrophies secondary to deficiencies of structural proteins.

Adult↗
PubMed2003

Juvenile muscular atrophy of distal upper extremity associated with airway allergy: two cases successfully treated by plasma exchange.

Juvenile muscular atrophy of the distal upper extremity (JMADUE) is postulated to be a type of flexion myelopathy. However, patients with typical clinical features of JMADUE but without evidence of flexion myelopathy have been reported. We recently reported a significant association of JMADUE with airway allergy. Here we report the successful treatment by plasma exchange (PE) of two patients with both airway allergy and JMADUE without evidence of flexion myelopathy. Patient 1 had a 5-year history of allergic rhinitis and high titers of mite antigen-specific IgE, and patient 2 had an 8-year history of pollinosis and high titers of cedar pollen-specific IgE. Both patients noted progressive distal muscle atrophy and weakness of the upper extremities: patient 1 for 3 months and patient 2 for 3 years. Neurologically, both showed asymmetric intrinsic hand muscle atrophy, oblique atrophy of the forearm muscles, and weakness and contraction fasciculation (minipolymyoclonus) of these muscles without any sensory impairment. Neither had any evidence of flexion myelopathy on magnetic resonance imaging (MRI) in a flexed position. Both were subjected to PE three times. Soon after the PEs, both showed improvement of distal muscle weakness of the upper extremities and marked reduction of contraction fasciculation of the forearm muscles. Patient 1 showed marked reduction in ongoing denervation potentials in the distal muscles on needle electromyography, while patient 2 showed marked improvement of F wave persistence of bilateral median and ulnar nerves. Serum total and allergen-specific IgE decreased after PEs in both patients. PE was thus considered to be effective in these two patients having JMADUE without evidence of flexion myelopathy. These observations may suggest the involvement of an immune-mediated process in the neural damage of JMADUE without evidence of flexion myelopathy, especially in patients with atopic diathesis, and may support the notion that JMADUE is etiologically heterogeneous.

Adolescent↗
PubMed1995

[Muscular involvement in the course of AIDS. Anatomo-clinical study of 17 cases].

We report 17 patients seropositive for the human immunodeficiency virus, with muscle tissue involvement in different stages of the disease. Some patients are treated with azidothymidine (AZT). Others have no opportunistic infections. In all cases, there are some muscular symptoms such as progressive symetric and proximal muscular weakness with myalgias, elevated serum muscle enzymes, abnormal electromyogramma and very often a peripheral neuropathy. The muscle biopsy reveals the following features: rarely a focal muscular opportunistic infection in advanced stage of the disease is observed; a polymyositis is quite often the first clinical manifestation of the disease; a myopathy with mitochondrial involvement is observed in some of the AZT treated patients; some cachectic, under nourrished, bedridden patients present a type II muscle fiber atrophy. We conclude that a muscle biopsy could help us in our therapeutic planning directing us to a corticotherapy in the polymyositis, mitochondriopathies and wasting syndrome. Interruption alone of AZT or associated with a treatment by carnitine could allow remission of the muscular pathology.

Acquired Immunodeficiency Syndrome↗
PubMed1976

[Influence of ouabain on the electrophoretic mobility of erythrocytes in 7 patients with Duchenne's muscular dystrophy].

Measurements of electrophoretic mobility of erythrocytes under the influence of ouabain were carried out on seven patients suffering from progressive Duchenne's muscular dystrophy. While ouabain-treated erythrocytes of healthy controls showed a significant decrease (alpha = 0.001) in electrophoretic mobility, an increase was found in five of the patients, and two patients revealed a slight drop in electrophoretic mobility. A significant difference (alpha = 0.001) was obtained in comparing the control group of patients. Initial trial measurements suggested that such a difference is also true for some other forms of muscular dystrophy and Werdnig-Hoffmann's spinal muscular atrophy.

Child↗