PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “PROGRESSIVE 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 937 records · Page 52Linked to original sources
PubMedDate not supplied

[Characteristics in the treatment of scoliosis in muscular diseases].

INTRODUCTION: Patients suffering from the most frequent muscle disorders Duchenne muscular dystrophy (DMD) and spinal muscular atrophies (SMA), who ceased walking respectively are confined from the outset to the wheel-chair, are developing commonly a progressive scoliosis (collapsing spine) due to an increasing muscle weakness. Basing on the pelvic obliquity these scolioses are leading first of all to problems in sitting as well as difficulties in trunk and head control. Along with the increasing weakness of respiratory muscles these phenomena entail a restrictive respiratory insufficiency. CONSERVATIVE TREATMENT: An effective conservative treatment is not available for these scolioses. The use of a corset, however, can only be taken into consideration as a compromise, either for very young patients or those who refused an operation respectively who have reached an inoperable stage. The exclusive use of so-called "anatomic sitting supports" in the wheel-chair in order to treat or prevent a progressive scoliosis in DMD or SMA is absolutely to be rejected. They should only be applied for very young patients with SMA type II as a transitional solution until a corset or better an surgical stabilisation of the spine will be effected, or as a palliative measure in late stages. SURGICAL TREATMENT: Only the early as possible performed surgical stabilisation of the spine using adequate instrumentation (Luque, CD or modifications), enabling an early mobilization without corset or cast, is the most effective treatment of these scoliosis. Patients with DMD or SMA type III should be stabilized after loss of walking ability and definitive confinement to wheel-chair, if the curve is more than 20 degrees-30 degrees Cobb and progressive and forced vital capacity (FVC) is > 35%. The instrumentation should be applied between D3 or D4 and sacrum. The bony fusion mass should include the lumbar and lumbosacral region. The unfused instrumentation with the telescope-rod after Naumann is a good solution for patients with SMA type II and progressive curves already in the early childhood from ca. 5 years of age. First of all surgical spinal stabilisation improves the sitting comfort. Over and above this the improved cosmetic appearance should not be underestimated for the psychological condition of these patients. Additionally it is proved, that surgical stabilisation of the spine prolongs the life expectancy of patients with DMD. Furthermore stabilization of lung function can be achieved for both DMD and SMA patients in comparison to the natural history of these diseases. Altogether a decisive improvement of quality of life can be reached for all these patients.

Adolescent↗
PubMedDate not supplied

[Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies].

The authors report a case with Fukuyama type congenital muscular dystrophy (FCMD) and severe ocular abnormalities. Muscular dystrophy was confirmed by EMG, high muscle enzyme value and muscular biopsy. Computed tomography (CT) of the brain at 15 months of life showed mild central and cortical atrophy. Repeated CT scans at 22 and 32 months showed progressive character of the atrophy, with preservation of the cerebellar areas and the central grey matter only. Ophthalmologist examination revealed nystagmus, severe visual deficit, optic nerve atrophy and irregular color of the retina, especially in the peripheric areas. Electroretinography (ERG) was normal, cortically evoked visual responses (PEV) were absent. The association of congenital muscular dystrophy with brain changes and ocular abnormalities were found in FCMD, muscle-eye-brain disease (MEB) and Walker-Walburg syndrome (WWS). Our report, according to the recent literature, suggests that ocular lesions are caused by the same mechanism that provokes the central nervous system anomalies. It is probably of genetic origin: FCMD, MEB and WWS could be development abnormalities with a continual spectrum of disease severity.

Brain↗
PubMed1993

[Some problems on the clinical phenotype of Machado-Joseph disease in relation between their ages at onset].

UNLABELLED: This study proposed that three phenotypes of Machado-Joseph disease (MJD) are closely related to the patients' ages at onset. MATERIALS: Six patients from two families. Autopsy performed in three of them (case 2, 4, 5). Two patients are a father (case 4) and his son (case 5). RESULTS: 1. Clinical features. All cases showed cerebellar ataxia and nystagmus. Progressive nuclear oculomotor palsy was common except for one case who killed himself in the early clinical stage. Pyramidal symptom which is increased deep tendon reflexes, spasticity, and extesor plantar response was common for three patients (case 3, 5, 6) whose ages of onset are under 40 years. One case (case 5) developed dystonia of foot at the age of ten and he developed the symptom of type 1 of MJD. However, the other three patients (case 1, 2, 4) who developed ataxia after the middle of the fifth decade showed hypotonia and decreased or absence of deep tendon reflexes from the beginning. The latter did not revealed spasticity or dystonia. Their clinical symptoms were identical with the type 3 of MJD. In spite of ages at onset, they showed general muscular atrophy and sensory disturbance in the advanced clinical course. 2. Neuropathological findings. 1) cerebellar system: Severe degeneration in the spinocerebellar system and mild to moderate one in the pontocerebellar system and dentate nuclei. The inferior olivary nucleus and the cerebellar cortex were almost preserved. 2) extrapyramidal system: Moderate to severe degeneration in the substantia nigra, globus pallidus (prominent in the internal segment) and subthalamic nucleus. 3) Degeneration in the oculomotor nuclei, motor neurons in the anterior horn and dorsal column of the spinal cord. CONCLUSION: These clinico-pathological findings indicate the difference of clinical phenotype is not always reflected those of neuropathological findings. The review of our experience and the literature suggests that the clinical features of MJD symptoms are related to the patients' ages at onset and clinical progression of the disease. When the disease begins before the age of ten, dystonia is an initial symptom, followed by pyramidal symptoms and cerebellar ataxia (type 1). In the early adult cases, the onset in which is earlier than forty, cerebellar ataxia and pyramidal symptoms are the initial symptoms, followed by extrapyramidal symptoms such as dystonia or choreoathetoid movements or both (type 2). In both instances however, decreased DTRs, muscular atrophy and sensory disturbance are common clinical manifestations at the advanced clinical stage. In late adult MJD cases with the age at onset after forty, the initial symptom is progressive cerebellar ataxia with hypotonia, followed by muscular atrophy and sensory disturbance (type 3). In spite of a marked degeneration in the extrapyramidal system, few or no extrapyramidal symptoms are detected in the last cases.

Adult↗
PubMed1988

Auditory brainstem responses (ABR) in children with neurological disorders.

Auditory brainstem responses (ABR) were studied in 35 children with neurological disorders and 24 controls. Abnormal results were obtained in 16 patients. All 5 of the patients with metachromatic leukodystrophy had evidence of peripheral and/or central delay in transmission in keeping with evidence of demyelination of both peripheral (i.e. auditory nerve) and central (i.e. brainstem) pathways as occurs in this disorder. Two children with lead poisoning had delayed conduction in the peripheral pathways only and in these there was good correlation between the degree of delay and the ulnar nerve conduction velocity; both improved after chelation therapy. One infant with lead poisoning had central delay only. One infant with osteopetrosis manifested progressive damage to the auditory nerves. Delayed conduction was also found in one patient each with hydrocephalus, spinal muscular atrophy, and in 2 infants with cerebral palsy. No responses were obtained in one infant with congenital rubella, one deaf-mute and one child with an undiagnosed degenerative neurological disease. Auditory brainstem responses are of value in detecting disturbances of the auditory nerve or brainstem in children with various neurological disorders.

Brain Stem↗
PubMed1980

Living with progressive childhood illness: parental management of neuromuscular disease.

This investigation is an exploratory study of parental management of progressive childhood neuromuscular disease. It focuses on parents for their significance as the primary managers of their children's diseases. The study, through its fieldwork component for the collection of data, utilizes participant observation. The researcher lived with each of six families for four days and nights to learn of the main concerns of parents with children who have Duchenne muscular dystrophy and Werdnig-Hoffmann disease, and the ways in which the parents manage these concerns. General patterns of positive parental management are defined and are followed by descriptions, in functional terms, of some of the strategies that parents employ to carry out these patterns.

Adolescent↗
PubMed1978

Spinal muscular atrophy in childhood: review of 50 cases.

The clinical findings in 50 children with intermediate or mild spinal muscular atrophy are reviewed. An early age of onset and the presence of tongue fasciculation carry a poor prognosis for disability. Scoliosis appears early in nearly all children with the more severe forms of spinal muscular atrophy and early energetic treatment is indicated. Contractures are also found in both the more severe and the milder forms and are the main cause of progressive disability, since continuous deterioration of muscle power was not evident in the present series. Respiratory failure is rare but potentially fatal, and may occur even in mild forms of the disease. Clinically evident weakness of the axial musculature may give warning of this complication.

Adolescent↗
PubMed1990

[MRI findings of the tongue in neurodegenerative diseases with bulbar sign].

We examined the magnetic resonance image (MRI) of the tongue in cases of amyotrophic lateral sclerosis (ALS), bulbo-spinal muscular atrophy (SBMA) and Shy-Drager syndrome (SDS) with sleep apnea. ALS case with severe bulbar disorder showed atrophic, irregularly margin tongue with increased signal intensity in T1-weighted MRI. ALS with less severe bulbar disorder demonstrated mixed hyperintensity and normointensity areas in the tongue. ALS without lingual symptoms showed increased intensity of tongue which suggested subclinical involvement of lingual muscle. BSMA case also showed atrophic tongue with diffusely increased signal intensity. SDS case with sleep apnea was revealed to have round shaped tongue without increased signal intensity, but his tongue fell into the posterior oral cavity, indicating hypotonus of genioglossus muscle. We concluded that MRI of the tongue is useful to determine the bulbar symptoms due to lower neuron disorder or not.

Aged↗
PubMed1996

The paralysé mouse mutant: a new animal model of anterior horn motor neuron degeneration.

The survival and morphometric characteristics of lumbar spinal motoneurons were examined in the paralysé mouse mutant. Affected (par/par) mice can be first recognized at approximately postnatal day (PN) 7 to 8 and are characterized by their smaller-than-normal body size, a progressive generalized muscle weakness, and lack of coordination. Mutant mice die by PN16-18, when they have become almost completely paralyzed. Previously, we have shown that this mutation involves alteration of several developmental aspects of the neuromuscular system. However, whether ventral (or anterior) horn motoneurons degenerate and die during the course of the disease was unknown. We report here that at the time the mutant phenotype can be first identified (i.e. approximately PN8), lumbar motoneuron numbers in the lateral motor column of the spinal cord of paralysé mice were not significantly different from those of control littermates. In contrast, by PN14, there was a significant (30 to 35%) decrease in motoneuron numbers in mutant compared to control mice. Furthermore, motoneuron (nuclear and soma) sizes were significantly decreased in the mutants at both stages examined, i.e. PN8 and PN14. These results show that the paralysé mutation involves atrophy and subsequent death of anterior horn motoneurons. Together with the rapid progression and the severity of the disease, these results suggest that the paralysé mouse may represent a good animal model for studying early-onset human motor neuron diseases such as spinal muscular atrophy.

Animals↗
PubMed1998

Caspase-3 cleaves the expanded androgen receptor protein of spinal and bulbar muscular atrophy in a polyglutamine repeat length-dependent manner.

Spinal and bulbar muscular atrophy (SBMA) is one of a group of human inherited neurodegenerative diseases caused by polyglutamine expansion. There is increasing evidence that generation of truncated proteins containing an expanded polyglutamine tract may be an important step in the pathogenesis of these disorders. We have previously demonstrated that the SBMA gene product, the androgen receptor (AR) protein, is toxic when truncated. We now report that in vitro translated full-length AR proteins containing different sized polyglutamine repeats (24, 65 and 97 repeats, respectively) are specifically cleaved by recombinant caspase-3, liberating a polyglutamine containing fragment, and that the susceptibility to cleavage is polyglutamine repeat length-dependent. These findings suggest that AR protein is one of the "death substrates" cleaved by caspase-3 and that caspase-3 might be involved in the pathogenesis of SBMA.

Bulbar Palsy, Progressive↗
PubMed1997

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.

Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings. Our study shows that Miyoshi myopathy is a heterogeneous, slowly progressive disorder. The disease starts with weakness and atrophy of the calves and progressively involves the proximal leg and hip muscles and, in a later stage the shoulder and upper arm muscles. After 10 years disease duration, one-third of the patients are dependent on wheelchairs for out-of-door transportation. Disease progression is related to disease duration and not to early age of onset of symptoms. Onset may be at any age and is asymmetrical in roughly half of the cases. Four cases had been initially diagnosed as idiopathic hyper-CK-aemia.

Adult↗
PubMed1998

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy is an X-linked motor neuronopathy caused by the expansion of an unstable CAG repeat in the coding region of the androgen receptor (AR) gene. Nuclear inclusions of the mutant AR protein have been shown to occur in the spinal motor neurons of spinal and bulbar muscular atrophy (Li M, Kobayashi Y, Merry D, Tanaka F, Doyu M, Hashizume Y, Fischbeck KH, Sobue G: Nuclear inclusions in spinal and bulbar muscular atrophy. Ann Neurol 1998 (in press)). In this study, we demonstrate the tissue-specific distribution, immunochemical features, and fine structure of nuclear inclusions of spinal and bulbar muscular atrophy. Nuclear inclusions were observed in affected spinal and brainstem motor neurons, but not in other, nonaffected neural tissues. Similar nuclear inclusions occurred in nonneural tissues including scrotal skin, dermis, kidney, heart, and testis, but not in the spleen, liver, and muscle. These inclusions had similar epitope features detectable by antibodies that recognize a small portion of the N-terminus of the AR protein only, and they were ubiquitinated. Electron microscopic immunohistochemistry showed dense aggregates of AR-positive granular material without limiting membrane, both in the neural and nonneural inclusions. These findings indicate that nuclear inclusions of AR protein are present in selected nonneural tissues as well as in neurons that degenerate in spinal and bulbar muscular atrophy, suggesting that a common mechanism underlies in the formation of neural and nonneural nuclear inclusions.

Aged↗
PubMed1987

[Neuroendocrine syndrome: pseudomyopathic spinal amyotrophy with gynecomastia related to the X chromosome. Kennedy's syndrome. 3 cases].

Three new cases of X chromosome-linked spinal muscular atrophy associated with gynaecomastia are reported. They were concordant with the description given in about 15 published reports: predominantly proximal muscle weakness and atrophy, fasciculations in the face and tongue, areflexia and slowly progressive course. In two of our patients nerve biopsy showed axonal lesions. All these patients had gynaecomastia. The relationship between the neurological and endocrine syndromes is discussed, but no firm conclusion can yet be drawn.

Adult↗
PubMed1988

[Nerve growth factors: a hypothesis on their role in the pathogenesis of infantile spinal amyotrophies].

The spinal muscular atrophies (SMA) are inherited neurological disorders characterized by degeneration and atrophy of spinal motoneurons at infant and juvenile stages. The origin of these diseases, and the mechanism of their progression, are completely unknown. Nevertheless, the selective neuronal loss which characterizes them is reminiscent of a classical experimental observation: injection of antibodies to the Nerve Growth Factor (NGF) in neonatal rats results in the almost complete selective destruction of the sympathetic nervous system. NGF is one of a group of molecules, the neuronal growth factors, which most likely play a role in the regulation of neuron number and development in different parts of the nervous system. In particular, several in vivo and in vitro results suggest that muscle may at certain stages produce "motoneuron growth factors". Our hypothesis is that the motoneuron death observed in the spinal muscular atrophies may be accelerated (or perhaps brought about) by a malfunction in this trophic support system. We show how this model would explain the perinatal or infantile onset of the disease, the variability of the rate of evolution between the different SMA forms, and the fact that motoneuron loss is much more dramatic in SMA than in even advanced cases of myopathy. We raise the possibility that the genetic lesion that leads to the spinal muscular atrophies may directly involve the growth factor system. Preliminary results obtained in vitro using cultures of embryonic chick spinal neurons do indeed suggest that muscle of SMA patients contains substances that inhibit muscle-derived growth-promoting activities. However, such phenomena must be interpreted with caution until the neurons and molecules involved are better characterized.

Humans↗