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Results for “PROGRESSIVE MUSCULAR ATROPHY”

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At least 343 records · Page 19Linked to original sources

PubMed1986

Observations on the clinical presentations and the neuropathological findings of amyotrophic lateral sclerosis in Australia and Guam.

Among 20 consecutive autopsies of amyotrophic lateral sclerosis (ALS) occurring in Caucasians in Western Australia (WA), 85% were males. The median age of onset was 58.9 years and the average duration of illness was 2.4 years. Twenty-two randomly selected ALS occurring among natives in Guam also showed a male predominance of 75%, younger age of onset (median 48.5 years) and longer survival period (median 3.4 years). 45% of the WA patients presented with bulbar involvement at the time of first examination. These patients had the lowest median survival period of 1.5 years when compared with the other forms of ALS, the classic upper and lower motor system involvement and progressive muscular atrophy. Theneuropathologic lesions of ALS in WA and Guam were similar with the exception that neurofibrillary tangles were frequently present in the Guamanian brains. In 14%, neuronal loss, gliosis and frequency of tangles in the cerebral cortex especially in Ammon's horn, substantia nigra, and locus ceruleus, were sufficiently severe to indicate the coexistence of another disorder, Parkinsonism-Dementia Complex. This condition was not clinically recognized. In the WA cases only one patient had tangles in the brain and he had concurrent Alzheimers disease. While senile plaques were present in this patient they were usually absent in the Guamanian brains.

Adolescent↗

PubMed1970

[Problems in human genetics].

A survey is given of the objectives of human genetics as well as of the relations between neurology and human genetics. Genetic problems of spinal progressive muscular atrophy are discussed in greater detail. What is of fundamental importance for genetic research is a clear diagnostic classification of the respective form of spinal muscular atrophy by means of the electromyogram and muscular biopsy as well as a demarcation from other myopathies.

Child↗

PubMed1981

Freeze fracture studies of human neuromuscular junctions. Membrane alterations observed in myasthenia gravis.

Freeze fracture replicas of neuromuscular junctions from normal human patients and those with facioscapulohumeral and limb girdle muscular dystrophies, progressive muscular atrophy, and myasthenia gravis were examined by stereoscopic electron microscopy. Endplates from most human patients closely resemble those of normal adult rats fixed by intravascular perfusion. However, endplates from patients with myasthenia gravis have clinically relevant alterations in postsynaptic membrane infrastructure, including decreased number of P-face particles and increased number of E-face particles in the crests of the junctional folds. Other junctional fold crests are narrowed or obliterated and are replaced by incompletely sealed membrane vesicles rich in intramembrane particles. Similar alterations are not produced in rat endplates by immersion fixation, exposure to low pH, brief hypoxia, prolonged or extreme hypothermia, prolonged or high frequency nerve stimulation, or by prolonged nerve quiescence. Rather, the destructive alterations observed in junctional fold membranes in myasthenia gravis endplates are correlated with decreased acetylcholine sensitivity and to removal of endplate acetylcholine receptors by immunologic processes.

Animals↗

PubMed1994

Swallowing in motor neurone disease.

Ninety-two patients with motor neurone disease have been assessed clinically and radiologically for evidence of swallowing problems. At the time of examination, moderate or severe swallowing difficulty was present in 89% of those whose disease had presented as bulbar palsy, in 45% of those in whom the disease began many months before as progressive muscular atrophy and in 29% of those with amyotrophic lateral sclerosis. Patients with more severe swallowing symptoms appeared more likely to have abnormal findings on videofluoroscopy overall. However, not all patients with an abnormal radiological picture had swallowing difficulties. It is suggested that radiological signs should only be used within the context of clinical symptoms and signs in the selection of patients for palliative surgery. Thirteen patients with pseudobulbar symptoms and signs had a cricopharyngeal myotomy performed: two suffered major post-operative complications. However, the satisfaction rate was 89% and we recommend cricopharyngeal myotomy for such patients. Pharyngostomy was performed for seven patients unable to initiate swallowing, six had post-operative complications.

Age of Onset↗

PubMed1995

[A patient with Kennedy-Alter-Sung syndrome showing cardiomyopathy].

A 31-year-old man with a history of progressive muscular atrophy and weakness from around 22 years of age, recently experienced arrhythmia. On examination he showed gynecomastia and slight proximal weakness in both upper and lower extremities. Androgen receptor gene analysis showed an increased number of tandem CAG repeats in exon 1, thus leading to a diagnosis of Kennedy-Alter-Sung (KAS) syndrome. Cardiological investigations including echocardiography, scintigraphy and catheterization disclosed dilated cardiomyopathy. Cardiac muscle biopsy showed myocardial cell degeneration. KAS syndrome is causatively related to androgen receptor gene abnormality. This receptor is widely distributed throughout human body, including the genital tract, spinal cord, liver, and heart. Androgen receptor dysfunction may induce cardiac muscle involvement in patients with KAS syndrome, producing the previously unknown pathophysiology of cardiomyopathy.

Adult↗

PubMed1977

Familial progressive bulbar-spinal muscular atrophy: case report with muscle biopsy study.

A case of familial progressive bulbar and spinal muscular atrophy was presented. The patient was a 59-year-old male with chief complaints of gait disturbance and nasal voice. His illness started at the age of 39 and very slowly progressed over 20 years. The clinical symptoms and signs were characterized by muscle weakness and atrophy due to lower motor neuron disease in the brain stem below the lower pons and the spinal cord. The electromyograms and muscle biopsy findings are basically neurogenic. In spite of the bulbar signs, the course of the disease is extremely slow. The diagnostic criteria was proposed after reviewing eight other cases reported in the literature.

Adult↗

PubMed1982

Progressing encephalomyelopathy with muscular atrophy, induced by aluminum powder.

The injection of aluminum powder into the cerebrospinal fluid of adult rabbits induced a slowly progressing encephalomyelopathy characterized at first by alteration of posture and then by myoclonic jerks and muscle weakness. Neurofibrillary degeneration was the hallmark of the disease and involved most of the gray areas. Giant axonal swellings were also numerous, particularly in the proximal axonal segment of neurons of the anterior horns. In the anterior horns the number of neurons with neurofibrillary degeneration decreased with time, while the images of neuronophagia increased in number in the rabbits killed in the second and third month after aluminum injection. In these animals there were also pathologic changes in the peripheral nerves and muscles. The peripheral nerve showed wallerian-like degeneration. Furthermore, in some animals, the presence of nodal axonal swellings and of paranodal myelin retraction were expression also of a distal axonopathy. Neurogenic muscular atrophy appeared in animals sacrificed in the second and third month after injection.

Aluminum↗

PubMed1975

An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the Netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.

Adult↗

PubMed1982

Epidemiology of amyotrophic lateral sclerosis.

Motor neuron disease (MND) is used in this paper as the generic label, encompassing the clinical variants of amyotrophic lateral sclerosis (ALS), progressive myelopathic muscular atrophy (PMMA), and progressive bulbar palsy (PBP). ALS is limited to instances of anterior horn cell plus pyramidal tract involvement. When only anterior horn cell lesions are inferred, either PMMA or PBP is used, depending on the levels of involvement; when both cord and brain stem are affected. PBP is the designation. Mortality data on MND have been available for a number of countries since 1949. The coding used under international rules has varied considerably over this interval. Before 1969, hereditary muscular atrophies were included. Since 1979, no subdivision by type of MND is possible. International death rates for MND have all been rather close to 1 per 100,000 population per year, though perhaps nearer to 1.4 on the average in recent years. There has been an increasing proportion of MND deaths coded to ALS between 1949 and 1977. There is no notable geographic variation among countries, nor within countries such as the U.S. and Denmark. A slight upward trend in death rates over time in the U.S. is matched by a slight decrease in Denmark. Death rates from all sources indicate a male preponderance for ALS or MND as a whole, at about 1.5 to 1, male to female. There is also a consistent predilection by age, with few deaths under age 50 or so and a clear maximum in age-specific death rates at about age 70. This holds for both sexes. In the U.S., there is also a white-nonwhite difference, with a ratio of about 1.6:1 but with age and sex differences similar to whites. Average annual incidence rates from among white occidental populations range mostly between 0.6 and 1.8 per 100,000 population for MND and about 0.8 and 1.5 per 100,000 for ALS. Again a male predilection is seen. There is a clear maximum in age-specific incidence rates at about age 65 in all surveys except that of Rochester, Minnesota, where the age-specific rate for those 75+ years of age is apparently higher than that for those age 65 to 74. Incidence rates, then, are quite similar one land to another. A reported deficit in Mexico may reflect case-selection bias. An excess among Filipinos on Hawaii seems more a function of population age-distributions than a true racial or ethnic difference. Prevalence rates from outside the Orient range from about 1 to 7 per 100,000 population for MND and about 2 to 7 for ALS. Those surveys more likely to be reasonably complete provide ALS prevalence rates of about 4 to 6, and an overall estimate of ALS prevalence of some 5 per 100,000 population is a reasonable figure. In the Orient, most of the MND prevalence rates fall within the same range as in the occident, except for two areas of the Kii peninsula of southern Honshu, Japan, where the reported prevalence rates are some 100 to 200 per 100,000 population. These cases are similar to the Guamanian ALS, both clinically and pathologically...

Adolescent↗

PubMed2005

Progress in Spinobulbar muscular atrophy research: insights into neuronal dysfunction caused by the polyglutamine-expanded androgen receptor.

Spinobulbar muscular atrophy (SBMA, Kennedy's disease) results from the dysfunction and degeneration of specific motor and sensory neurons. The underlying cause of this ligand-dependent neurodegenerative disease is expansion of the CAG trinucleotide repeat in the androgen receptor (AR) gene which leads to lengthening of the polyglutamine tract in the AR protein. Recently, the effects of the polyglutamine-expanded AR have been explored in a number of cellular and animal models. Common themes include research on polyglutamine-containing nuclear inclusions and the effect of molecular chaperone overexpression on their formation. In addition, investigations have highlighted the role that abnormal transcriptional regulation, proteasome dysfunction and altered axonal transport may play in disease pathogenesis. These studies suggest a number of potential treatments for restoring neuronal function. One of the most interesting advances in SBMA research has been the creation of mouse models that recapitulate the key features of SBMA progression in men. Lowering testosterone levels in affected transgenic male mice rescued, and even reversed the polyglutamine-induced neuromuscular phenotype, indicating that manipulating androgen levels in men could be of therapeutic benefit. Although the question of why only a distinct subset of neurons is affected by polyglutamine expansion of the AR remains unsolved, future research will provide further insights into the mechanisms contributing to disease progression in SBMA.

Animals↗

PubMed2000

Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy.

Hirayama's disease (HD) is frequently found in Asia, and is rarely referred among westerners. It affects young people with higher incidence in males. It is a focal distal amyotrophy with unilateral or asymmetric bilateral involvement of C7, C8 and T1 innervated muscles. HD appears sporadically and has a benign evolution with clinical stabilization in around one year. We report four young male patients with clinical and electrophysiological alterations described in HD, which were followed-up during 5 years. Electromyographic findings were indicative of lower motor neuron involvement. We analyzed cervical MRI aiming at understanding if a questionable spinal cord compression could be implicated in the pathogenesis, but no abnormality was verified. In view of its clinical, and EMG characteristics, HD is no more than a benign monomelic amyotrophy (BMA) clinical variant, and not a specific disease. This eponym could be considered only for the distal upper limb variant (Hirayama's variant) of the BMA.

Adult↗

PubMed1960