Search results for "Muscle Weakness"

Neurodegenerative changes are prevented by Erythropoietin in the pmn model of motoneuron degeneration

2014

Motoneuron diseases are fatal neurodegenerative disorders characterized by a progressive loss of motoneurons, muscle weakness and premature death. The progressive motor neuronopathy (pmn) mutant mouse has been considered a good model for the autosomal recessive childhood form of spinal muscular atrophy (SMA). Here, we investigated the therapeutic potential of Erythropoietin (Epo) on this mutant mouse. Symptomatic or pre-symptomatic treatment with Epo significantly prolongs lifespan by 84.6% or 87.2% respectively. Epo preserves muscle strength and significantly attenuates behavioural motor deficits of mutant pmn mice. Histological and metabolic changes in the spinal cord evaluated by immunoh…

Ankle muscle strength discriminates fallers from non-fallers

2014

International audience; It is well known that center of pressure (CoP) displacement correlates negatively with the maximal isometric torque (MIT) of ankle muscles. This relationship has never been investigated in elderly fallers (EF). The purpose of this study was thus to analyze the relationship between the MIT of ankle muscles and CoP displacement in upright stance in a sample aged between 18 and 90 years old that included EF . The aim was to identify a threshold of torque below which balance is compromised. The MIT of Plantar flexors (PFs) and dorsal flexors (DFs) and CoP were measured in 90 volunteers: 21 healthy young adults (YA) (age: 24.1 +/- 5.0), 12 healthy middle-aged adults (MAA)…

Dropped head as an unusual presenting sign of myasthenia gravis.

2007

Prominent or isolated weakness of cervical extensor muscles is a relatively rare clinical sign. Commonly, this is known as "dropped-head syndrome". This abnormal flexion of the head may occur in a variety of neuromuscular diseases and in a few non-neurological disorders as well. The case we describe concerns a 61-year-old woman with dropped-head syndrome as the unique complaint of myasthenia gravis.

ASYMMETRICAL LOWER EXTREMITY POWER DEFICIT AS A RISK FACTOR FOR INJURIOUS FALLS IN HEALTHY OLDER WOMEN

2006

Glucocorticoid-sensitive hereditary inclusion body myositis.

1996

We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.

2010

A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

2012

Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …

Myoadenylate deaminase deficiency

1987

Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …