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 901 records · Page 50Linked to original sources
PubMed2000

Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity.

OBJECTIVE: To investigate specificity and significance of dynamic changes of the cervical dural sac and spinal cord during neck flexion in juvenile muscular atrophy of the distal upper extremity. BACKGROUND: The disorder affects young people-predominantly men-and is progressive for several years. One autopsy case showed ischemic necrosis of the cervical anterior horn, suggesting that the disorder is a type of cervical myelopathy. Some authors classify it as monomelic amyotrophy, implying that it is a focal motor neuron disease. METHODS: Neuroradiologic examinations including myelography, CT myelography, and MRI in a fully flexed neck position were performed on 73 patients with this disorder and on 20 disease control subjects. RESULTS: A distinctive finding in the disorder was forward displacement of the cervical dural sac and compressive flattening of the lower cervical cord during neck flexion. The forward displacement was significantly greater in patients with disease duration less than 10 years than in age-matched control subjects and patients in a late, nonprogressive stage. CONCLUSIONS: Radiologic abnormalities of the lower cervical dural sac and spinal cord support the hypothesis that this disorder is a type of cervical myelopathy.

Adolescent↗
PubMed1994

Unstable trinucleotide repeats and the diagnosis of neurodegenerative disease.

Human genes containing unstable triplet repeats are associated with several neuropsychiatric diseases. These diseases all show a marked variation in clinical symptoms and genetic anticipation. The molecular understanding of these diseases provides the diagnostic laboratory with the capability to test directly whether an individual's DNA contains the disease-causing mutation, either as a confirmation of a clinical diagnosis or presymptomatically.

Bulbar Palsy, Progressive↗
PubMed2006

Elevated caspase and AIF gene expression correlate with progression of sarcopenia during aging in male F344BN rats.

To establish the relationship between the progression of sarcopenia and apoptosis we examined apoptotic gene expression in plantaris muscles (Pl) from 8 mo old (n=8), 30 mo old (n=8) and 35 mo old (n=6) male rats by real-time PCR. Pl mass declined from 368 +/- 7 mg at 8 mo to 333 +/- 7 mg at 30 mo (P<0.05) and 210 +/- 15 mg at 35 mo of age (P<0.05). BAX, Bcl-2, and Apaf-1 expression decreased by 62-74% at 30 mo and by 90-96% at 35 mo of age (all P<0.05 vs 8 mo old). In contrast, the expression of Caspases 3, 8, and 9 and AIF increased 3- to 5-fold at 30 mo (NS) and 7- to 50-fold at 35 mo of age (P<0.05). There were significant (P<0.05) correlations between Pl mass and Caspase 3 (r(2)=-0.60), Caspase 9 (r(2)=-0.58), Caspase 8 (r(2)=-0.50), and AIF (r(2)=-0.48). Thus, our results show that the expression of some genes involved in apoptosis increase with aging in Pl and correlate with progression of sarcopenia (Caspase 3, Caspase 9, Caspase 8, and AIF), whereas others decline with aging (BAX, Bcl-2, and Apaf-1).

Aging↗
PubMed2002

Home care for chronic respiratory failure in children: 15 years experience.

BACKGROUND: Advances in paediatric intensive care have reduced mortality but, unfortunately, one of the consequences is an increase in the number of patients with chronic diseases. It is generally agreed that home care of children requiring ventilatory support improves their outcomes and results in cost saving for the National Health Service. METHODS: Since 1985, the Children's Hospital Bambino Gesù of Rome has developed a program of paediatric home care. The program is performed by a committed Home Health Care Team (HHCT) which selects the eligible patients for home care and trains the families to treat their child. During the period January 1985 to January 2001, 53 children with chronic respiratory failure were included in the home care program. Of these, seven patients were successively excluded and six died in our intensive care unit (ICU), while one still lives in our ICU since 1997. The results obtained in the remaining 46 children are reported. RESULTS: The pathologies consisted of disorders of respiratory control related to brain damage (26%), upper airways obstructive disease (26%), spinal muscular atrophy (22%), myopathies and muscular dystrophies (6.5%), bronchopulmonary dysplasia (6.5%), tracheomalacia (6.5%), central hypoventilation syndrome (4.3%) and progressive congenital scoliosis (2.2%). Of these 46 patients, 34 children are mechanically ventilated and the median of their ICU stay was 109.5 days (range 54-214 days), while the remaining 12 children were breathing spontaneously and the median of their ICU stay was 90.5 days (range 61-134 days). We temporarily readmitted six patients to our ICU to perform scheduled otolaryngological surgery, eight patients for acute respiratory infections and two patients for deterioration of their neurological status due to high pressure hydrocephalus for placement of a ventriculoperitoneal shunt; these 16 patients were discharged back home again. Two other patients were readmitted for deterioration of their chronic disease and died in our ICU, while seven patients died at home. CONCLUSIONS: Thirty-seven children are still alive at home and four of them improved their respiratory condition so that it was possible to remove the tracheostomy tube. Our oldest patient has now achieved 15 years of mechanical ventilation at home.

Child↗
PubMed2004

Body weight, limb size, and muscular properties of early paraplegic mice.

Patients with spinal cord injury (SCI) typically experience body weight loss, motor function deficits, and a general decline of physical fitness. Animal models with these characteristics can serve to study the detailed adaptive changes following SCI. In the present study, we report the use of an adult paraplegic mouse model to study SCI-induced changes. We characterized the early effects of complete thoracic spinal cord transection on (1) whole body weight, (2) forelimb and hindlimb weight and volume, and (3) contractile properties of hindlimb extensor muscle. Drastic changes were found at 7 days post-spinal cord transection. These included a 24% loss in whole body weight accompanied by a large decrease of weight and volume in the forelimbs and the hindlimbs. We also observed in the soleus muscle, a 32% decrease in mass and maximal tetanic tension (Po) as well as a 21% and 48% increase in time-to-peak tension (TPT) and half-relaxation time (1/2 RT) respectively. After 28 days, all of the changes remained, except for 1/2 RT and TPT which nearly returned to control levels. Altogether, the results reveal that large changes in body weight, limb size and musculoskeletal properties occur within only one week after complete spinal cord transection. The use of paraplegic mouse models may provide new therapeutic approaches to restore motor and locomotor functions after SCI.

Animals↗
PubMed1991

Ubiquitin in motor neuron disease: study at the light and electron microscope.

Several neurodegenerative diseases, including motor neuron disease (MND), are characterized by formation of abnormal cytoskeleton-derived inclusions which contain ubiquitin (Ubq). We have studied the distribution of Ubq in 26 cases of MND with light and electron microscopic immunocytochemistry. Ubiquitin-positive inclusions were found in neurons of anterior horns in most cases of amyotrophic lateral sclerosis (ALS) but were not present in other forms of MND. Ubiquitin immunoreactivity was observed in 10-15 nm intraneuronal filaments, which were not stained by antibodies to neurofilaments, and on dense bodies of dystrophic neurites throughout the neuropil of anterior horns and pyramidal tracts. Data analysis showed a trend toward lower percentage of Ubq-positive neurons in cases with longer duration of illness or lower number of neurons. A high percentage of Ubq-positive inclusions occurred in cases with an aggressive clinical course, suggesting that ubiquitination takes place at early stages of the disease.

Adult↗
PubMed1997

Neuro-ophthalmic genetics.

Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. In addition to more accurate disease classification and diagnosis, identification of genetic loci, genes, and their mutations has stimulated investigation into factors influencing disease expression and penetrance.

Animals↗
PubMed1990

Immunoglobulin-mediated activity against red blood cells in the saliva of amyotrophic lateral sclerosis (ALS) patients.

Immunoglobulin (Ig)-mediated activity in plasma directed towards normal blood type matched red blood cells (RBC) inducing haemolysis in vitro has earlier been demonstrated to be a characteristic feature in ALS-patients. In this study, saliva of ALS-patients, normal and diseased controls was tested with the same in vitro test. An increased degree of haemolysis was induced by the ALS-patient as compared with control samples. The activity thus found in saliva had the same basic characteristics as that earlier described for plasma; it reacted similarly to serial dilution and was retained in salivary Ig. The effect on red blood cells of saliva from patients with bulbar paralysis was larger than that of saliva from ALS-patients lacking bulbar symptoms. It is discussed whether cytotoxic Ig in saliva could be pathophysiologically active in bulbar paralysis by means of passage through the oral mucosa and local action on motor end plates in perioral muscles.

Adult↗
PubMed1988

Preclinical and subclinical events in motor neuron disease.

It is suggested that in motor neuron disease there is a long preclinical period of relative tolerance and compensation before presentation with apparently focal features. During this phase the disease becomes disseminated through the motor system. The mode of acquisition of the disease, its relation to a possible genetic factor, and the processes leading to tolerance, to latency or progression, to the relative involvement of upper and lower motor neurons, to involvement of spinocerebellar pathways, and to asymmetry are fundamental problems in understanding the disease.

Adult↗
PubMed1994

An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy.

Limb-girdle muscular weakness and wasting could be caused by different diseases (inflammatory and hereditary myopathies, muscular dystrophies and neurogenic atrophies). Among these, Limb-Girdle Muscular Dystrophy (LGMD) is an heterogeneous group of pathologies that have progressive proximal limbs and girdle weakness, with some dystrophic features by the muscle biopsy. We studied a case of LGMD in an adult man with a typical histological and histochemical profile, associated to a mitochondrial deficit characterized by presence of ragged-red fibers, a histochemical Cytochrome Oxidase deficiency and abnormal mitochondria by ultrastructure.

Adult↗
PubMedDate not supplied

[New data on the epidemiology and morphology of Viliuisk encephalomyelitis].

Viliuisk encephalomyelitis (VEM) appears to be endemic disease, affecting native population in Yakutia (Yakut, Even, Evenk). The infectious nature of VEM is very likely, but not yet established with certainty. The mortality rate caused by VEM from 1950 to 1990 was 17.4 per 10000 of native population. The maximum morbidity can be seen in Viliui and Central zones of Yakutia. Women were affected one and a half times more than men. VEM is characterized by multiple micronecrotic foci with marked inflammatory reactions and gliosis in the brain tissue. The vascular component in VEM is manifested by vasculitis, plasmarhagies, obliteration of the capillary lumen with development of capillarofibrosis, progressive reduction of the microcirculatory bed, the deformation of walls in major vessels with atrophy of their muscular layer, in some cases--by hyaline thrombi. The data presented give no grounds to consider the vascular component as secondary, relating only to the brain atrophy.

Adolescent↗
PubMed1994

Ultrastructure of systemic sclerosis inflammatory myopathy.

Muscle biopsies from 7 patients with systemic sclerosis (SS) and a slowly progressive proximal muscular weakness were studied ultrastructurally. In all cases an inflammatory myopathy was found exhibiting fibre atrophy, occasional fibre necrosis, connective tissue proliferation, filamentous bodies, concentric laminated bodies and a mononuclear cell infiltration formed by lymphocytes, macrophages and mast cells. Capillary abnormalities included alterations of endothelium, thickening and reduplication of basement membrane and the presence of cylindric confronting cisternae. The different associations between muscle diseases and SS are grouped. Our data suggest that SS inflammatory myopathy is a distinct clinical and pathological entity.

Biopsy↗
PubMed1996

[Motor neuron diseases. Present].

Recent progress in our understanding of motor neuron diseases, particularly those of degenerative pathogenesis such as spinal muscular atrophies (SMA) and amyotrophic lateral sclerosis (ALS), have to be described as historic. They are essentially of three types: 1) In first place are advances afforded by molecular genetics both in SMA (with the discovery of survival motor neurons and neuronal apoptosis inhibitor protein, which are markers of the disease and their pathogenetic mechanism) and in ALS (with the discovery of the super oxide dismutase [SOD1] gene, involved in the genesis of familial forms of ALS and other types of SMA such as certain forms of familial juvenile ALS, bulbar-spinal atrophy with gynecomasty and others). 2) In second place are biological data detailing the mechanisms of neuron death, whether programed or not, and emphasizing the importance of the so-called trophic or neurotrophin factors-whether nerve growth factor, brain-derived-neurotrophic factor, neurotrophin-3 or others whose effect of preventing neuron death has been demonstrated in vitro-as well as that of other substances such as Ca(2+)-activated neutral protease, which stabilizes synapses during development. It is assumed that one or another of these data will lead to therapeutic strategies for blocking the cascade of events that lead to neuron degeneration. 3) Finally, the strong impact of neuroimmunology in the field of neuromuscular pathology has been of interest mainly in neurogenic diseases marked purely and essentially be motor expression. As markers and pathogens, antiganglioside antibodies must necessarily be determined at this time in such entities as multifocal motor neuropathy, Guillain-Barré syndrome, acute axon motor neuropathy, Miller-Fisher syndrome and others, as their presence can inform therapeutic approaches. These three aspects and others currently under discussion will be treated in this course. At the same time the basic diagnostic aspects of motor neuron diseases will be emphasized: electrophysiologic assessment, on the one hand, and clinical features on the other. Establishing an exhaustive classification of SMA, from the earliest forms of infancy to adult types, is of great priority, as is exposing the full range of SMA according to whether distal or proximal predominance of atrophy is present. Our current understanding of the field is summarized in ten chapters on degenerative motor neuron diseases.

Amyotrophic Lateral Sclerosis↗