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Results for “PROGRESSIVE MUSCULAR ATROPHY”

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At least 1,243 records · Page 69Linked to original sources
PubMed1985

Congenital muscular dystrophy with severe infantile scoliosis.

A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.

Biopsy↗
PubMed2005

The effect of peripheral nerve injury on disease progression in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

Around 20% of familial cases of amyotrophic lateral sclerosis have been shown to carry mutations in Cu/Zn superoxide dismutase 1 (Cu/Zn SOD1). Transgenic mice over-expressing human mutant SOD1 genes have been developed and in this study we examined the effect of nerve injury on disease progression in these mice. Firstly, disease progression in uninjured mice was characterised using physiological methods. Muscle force, contractile characteristics and motor unit survival was established at 90 days, an early symptomatic stage and also at the end-stage of the disease, at 130 days. In addition, muscle histochemistry was examined and the extent of motoneuron survival established morphologically. By 90 days of age, there is a significant reduction in muscle force, and nearly 40% of motoneurons within the sciatic motor pool have already died. By 130 days, the muscles are significantly weaker, and there is a dramatic change in the phenotype of extensor digitorum longus (EDL), which changes from a fast fatigable muscle, to a fatigue resistant muscle with a high oxidative capacity. By this stage of the disease, only 40% of motor units in EDL survive, with only 29% of motoneurons surviving within the sciatic motor pool. Following injury to the sciatic nerve in SOD1(G93A) mice, there is an acceleration in disease progression so that 90 day old mice show deficits that are only seen at the end stage in uninjured SOD1(G93A) mice. It is therefore possible that mutant SOD1 toxicity increases the vulnerability of motoneurons and muscles to stressful stimuli such as nerve injury.

Amyotrophic Lateral Sclerosis↗
PubMed2005

Circulating acute phase mediators and skeletal muscle performance in hospitalized geriatric patients.

BACKGROUND: There is growing evidence for the significant involvement of inflammatory processes in the development of muscle wasting in old age. Therefore, any disease accompanied by inflammation can be threatening to the muscle function in geriatric patients. METHODS: Sixty-three hospitalized geriatric patients (42 female, 21 male; mean age 84.2 +/- 5.7 years) were monitored weekly for muscle function (grip strength, fatigue resistance, shoulder extension strength, and hip extension strength) and for concentration of circulating C-reactive protein (CRP), fibrinogen, interleukin 6 (IL-6), and tumor necrosis factor-alpha alpha (TNF-alpha). RESULTS: On the basis of circulating CRP and fibrinogen concentrations, 42 patients were categorized on admission as inflammatory and 21 as noninflammatory. Inflammatory patients presented significantly weaker grip strength, shoulder extension strength, and a worse fatigue resistance than did noninflammatory patients. These muscle functions were negatively correlated with the concentrations of circulating CRP and IL-6, but not with fibrinogen or TNF-alpha. In noninflammatory patients, the fatigue resistance improved significantly during the first week of hospitalization. In patients admitted with inflammation, no improvement of muscle function was observed. Patients who remained inflammatory for 2 weeks or more presented a significant worsening of fatigue resistance. CONCLUSIONS: Geriatric hospitalized patients presenting with inflammation show significantly worse muscle functions, which do not improve during hospitalization despite adequate treatment of the primary disease. Reduced strength and fatigue resistance are significantly related to the concentration of circulating CRP and IL-6. Standard treatment of the underlying illness and classic physical therapy are not sufficient to normalize the skeletal muscle strength and fatigue resistance in these hospitalized patients.

Aged↗
PubMedDate not supplied

Effects of aging and voluntary exercise on the function of dystrophic muscle from mdx mice.

To understand how exercise affects the contractile function of dystrophic muscle, we examined the effect of long-term voluntary exercise on mdx mice and related these effects to our findings in sedentary aging mice. Although the mdx mouse is the genetic homolog for Duchenne muscular dystrophy, it does not demonstrate the same progression in limb muscle dysfunction as Duchenne muscular dystrophy as it ages. We postulated that the sedentary lifestyle of this animal plays an important role in its minimal phenotypic expression. To examine the effect of exercise, eight C57BL/10 (C57) and eight mdx mice were allowed to run ad libitum for one year. Forty sedentary mdx mice and 40 sedentary C57 from one month to 18 months of age were used as controls. Contractile characteristics of the extensor digitorum longus and soleus muscles and morphometric characteristics of the mice were examined. The mdx mice ran approximately 45% fewer kilometers per day than C57 mice. Long-term voluntary running had beneficial training effects on both the old mdx mice and their C57 controls. The exercise ameliorated the age-associated loss in tension production that was observed in the soleus of sedentary mdx and sedentary C57 mice. There was a 9% reduction in the fatigability of the extensor digitorum longus muscle of the old mdx mice after the exercise. Despite these improvements, the old mdx mice exhibited significant functional deficits compared with their C57 controls. Our hypothesis, that long-term voluntary exercise would have a beneficial training effect on control mice and a deleterious effect on mdx mice as they aged, was not supported by this study. This study shows that dystrophin-less muscles from sedentary mice display significant signs of muscle damage, yet can respond beneficially to low-level voluntary running in a manner similar to that of the C57 control.

Aging↗
PubMed1991

[Reconstruction of facial contour in hemifacial atrophy (Romberg disease) using a free revascularized scapula-fat-fascia flap].

Presented is a case of progressive hemifacial atrophy. The reconstruction of the deficient left face-contour was performed by a free microsurgical transplanted fat-fascia flap from the scapular region. The position of the fascial layer of the inlay, facing skeletal and muscular structures, enables fixation of the transplanted tissue to zygomatic periosteum and fascia of the temporalis muscle. Thus we have advantage to avoid sagging of the transplanted tissue in upright position and to remove over-correcting applied amounts of fatty tissue during the first corrective operation.

Adipose Tissue↗
PubMed2001

Progressive neuronal and motor dysfunction in mice overexpressing the serine protease inhibitor protease nexin-1 in postmitotic neurons.

Perturbation of the homeostasis between proteases and their inhibitors has been associated with lesion-induced or degenerative neuronal changes. Protease nexin-1 (PN-1), a secreted serine protease inhibitor, is constitutively expressed in distinct neuronal cell populations of the adult CNS. In an earlier study we showed that transgenic mice with ectopic or increased expression of PN-1 in postnatal neurons have altered synaptic transmission. Here these mice are used to examine the impact of an extracellular proteolytic imbalance on long-term neuronal function. These mice develop disturbances in motor behavior from 12 weeks on, with some of the histopathological changes described in early stages of human motor neuron disease, and neurogenic muscle atrophy in old age. In addition, sensorimotor integration, measured by epicranial multichannel recording of sensory evoked potentials, is impaired. Our results suggest that axonal dysfunction rather than cell death underlies these phenotypes. In particular, long projecting neurons, namely cortical layer V pyramidal and spinal motor neurons, show an age-dependent vulnerability to PN-1 overexpression. These mice can serve to study early stages of in vivo neuronal dysfunction not yet associated with cell loss.

Amyloid beta-Protein Precursor↗
PubMed1996

Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): an electrophysiological study.

Electrophysiological findings were studied in a family with spino-bulbar muscular atrophy (SBMA): the subjects were three male patients aged 58, 38 and 34 years and two female carriers aged 63 and 28 years. Diagnosis was proven at the molecular genetic level. Electromyography in the males showed spontaneous activity and neurogenic reorganization of the motor unit; motor nerve conduction was normal. Sensory action potentials were variably reduced in amplitude, but some were completely normal. Somatosensory evoked potentials, from both the upper and lower limbs, were invariably abnormal because involvement of the central pathways was observed. These findings are in agreement with histological investigations documenting lesions in the posterior columns. Brain-stem acoustic evoked potentials showed an increase in wave I latency. The electrophysiological data provide further evidence of the extent of sensory damage either in the central or the peripheral nervous system in SBMA patients, who otherwise have a constant clinical presentation of progressive motor neuron disease.

Adult↗
PubMed1986

Magnetic resonance imaging in cerebrotendinous xanthomatosis.

In a patient with cerebrotendinous xanthomatosis, magnetic resonance imaging (MRI) revealed findings of demyelination in the cerebral white matter, which was also hypodense on CT. The MRI abnormality seemed to be clinically significant in this patient with progressive dementia and abnormal gait.

Atrophy↗
PubMed1990

[A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers].

An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated serum CK and calf muscle hypertrophy, her muscle was biopsied and she was diagnosed as having female DMD at the age of 5 years. She had generalized tonic-clonic convulsions and alternate hemiconvulsions for recent 4 years which brought her our hospital. On admission, she had mild generalized muscle atrophy and weakness predominantly in the proximal limbs. The lactate and pyruvate levels in both serum and cerebrospinal fluid were elevated, but with no metabolic acidosis. Serum CK was elevated to 4464 IU/L. Brain CT and MRI showed the expanding arachnoid cyst in the left middle fossa of cranium. In the biopsied left biceps crachii muscle, in addition to numerous ragged-red fibers, there were active muscular fiber necrosis and regeneration and interstitial fibrosis similar to those seen in progressive muscular dystrophy. Biochemically, no decrease or defect in the respiratory chain enzymes was detected. On electron microscopy, a large number of fibers contained aggregates of giant mitochondria with proliferated complicated cristae. Scattered throughout were necrotic muscle fibers filled with phagocytes and regenerating fibers. This patient had the diagnostic features of mitochondrial encephalomyopathy and progressive muscular dystrophy. We supposed that the patient provided very interesting evidences to study the relationship between mitochondrial myopathy and progressive muscular dystrophy.

Child↗
PubMed1995

Unstable triplet repeat sequences: a source of cancer mutations?

Numerous mutations have been related to various types of cancer. Short tandem repeats (STRs) are repetitive DNA elements that are often polymorphic in normal populations. Triplet repeat expansion has been related pathogenetically to six diseases: fragile X syndrome, fragile X E syndrome, spinobulbar muscular atrophy, myotonic dystrophy, Huntington's disease, and spinocerebellar ataxia type 1. The characteristics of the GC-rich repeat expansion are diverse and result in profound changes in phenotype, sometimes within a single generation in affected families. We expect that simple repeat expansion will cause some cancers based on our knowledge of these unstable DNA sequences in the previously mentioned genes. This may occur by alteration of tumor suppressor gene expression, alteration in coding features of proteins, or change in bystander oncogene expression such as that which occurs with DNA methylation. The demonstrated meiotic instability could link this mechanism of mutation of familial cancer syndromes. The recent discovery of STR instability at multiple sites in hereditary nonpolyposis colon cancer suggests sequence instability may be a factor in cancer progression. Continued identification of candidate genes containing triplet repeats should allow a ready testing of the hypothesis that unstable simple repeat sequences can cause cancer.

Base Sequence↗