Search results for "Muscle Weakness"
showing 10 items of 68 documents
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
2003
Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. The disease relentlessly progressed resulting in severe incapacity within 5 years after onset. We have now identified three other patients with early onset rapidly progressive cardiac and skeletal myopathy caused by this same desmin R406W mutation. The mutation was present in each studied patient, but not in their parents or other unaffected family member…
Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.
2009
Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age. Muscle weakness can compromise vital functions such as breathing or swallowing and heart arrhythmias are also frequent during attacks. Preimplantation genetic diagnosis, an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was used to prevent the transmission of this disease. Six polymorp…
Symptom prevalence in the last days of life in Germany: the role of place of death.
2011
Investigations have shown that symptom prevalence varies according to the place of death. We sought to assess the symptom prevalence of chronically ill people in Germany and how this prevalence differs depending on the place of death. We sent questionnaires to 5000 bereaved people in Rhineland-Palatinate (Germany), whose relatives died between May 25 and August 24, 2008. In all, 3832 questionnaires were delivered and 1378 completed (response 36.0%). Most decedents had moderate-to-severe weakness (94.5%), fatigue (93.5%), need for help in daily activities (87.9%), and appetite loss (87.4%). Pain and dyspnea were most severe in hospitals; fatigue, confusion/disorientation, and problems with w…
Safety and feasibility of a neuromuscular electrical stimulation chronaxie-based protocol in critical ill patients: A prospective observational study
2017
International audience; Purpose: The aim of this study was to evaluate the safety and feasibility of a neuromuscular electrical stimulation (NMES) protocol based on neuromuscular excitability and applied in numerous muscle groups of critical ill patients.Materials and methods: We performed a prospective observational study using an NMES applied daily and bilaterally into 5 muscle groups in lower limbs for 3 consecutive days. The characteristics of NMES were 90 contractions per muscle, pulse width equal to chronaxie, and a pulse frequency of 100 Hz. We assessed safety with central venous oxygen saturation, serum lactate, and creatine phosphokinase measurements. To evaluate feasibility, we re…
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis
2018
Background and purpose Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Methods We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre-symptomatic hyperCKemia with no muscle weakness and the second with limb-girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as w…
Age and Grip Strength Predict Hand Dexterity in Adults.
2015
In the scientific literature, there is much evidence of a relationship between age and dexterity,\ud where increased age is related to slower, less nimble and less smooth, less coordinated\ud and less controlled performances. While some suggest that the relationship is a direct consequence\ud of reduced muscle strength associated to increased age, there is a lack of research\ud that has systematically investigated the relationships between age, strength and\ud hand dexterity. Therefore, the aim of this study was to examine the associations between\ud age, grip strength and dexterity. 107 adults (range 18-93 years) completed a series of hand\ud dexterity tasks (i.e. steadiness, line tracking…
Lower limb muscle weakness predicts use of a multiple- versus single-step strategy to recover from forward loss of balance in older adults.
2012
BACKGROUND: Older adults compared with young adults have reduced strength and balance recovery ability. The purpose of the present study was to investigate whether age, sex, and/or lower limb strength predicted the stepping strategy used to recover from a forward loss of balance. METHODS: Ninety-five, community-dwelling, older adults, aged 65-90 years, participated in the study. Loss of balance was induced by releasing participants from a static forward lean. Participants performed four trials at three initial lean magnitudes and were subsequently classified as using a single- or multiple-step strategy. Isometric strength of the ankle, knee, and hip joint flexors and extensors was assessed …
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in fo…
1997
Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade o…
Ankle muscle strength influence on muscle activation during dynamic and static ankle training modalities.
2015
Muscle weakness is considered a risk factor for ankle injury. Balance training and barefoot running have been used in an attempt to strengthen the muscles crossing the ankle. It is expected that training tasks that successfully strengthen the ankle would elicit increased muscular activity. However, it is unknown how an individual's ankle strength will influence the muscle activity used during a given task. Twenty-six participants performed dynamic (shod, barefoot running) and static tasks (squat on ground, squat on ®Bosu Ball) believed to strengthen the muscles surrounding the ankle. Electromyographic signals of the tibialis anterior, peroneus longus, gastrocnemius lateralis (GL) and gastro…
Effect of electrostimulation training-detraining on neuromuscular fatigue mechanisms.
2007
The aim of this study was to evaluate the effects of neuromuscular electrical stimulation (NMES) training and subsequent detraining on neuromuscular fatigue mechanisms. Ten young healthy men completed one NMES fatigue protocol before and after a NMES training program of 4 weeks and again after 4 weeks of detraining. Muscle fatigue (maximal voluntary torque loss), central fatigue (activation failure), and peripheral fatigue (transmission failure and contractile failure) of the plantar flexor muscles were assessed by using a series of electrically evoked and voluntary contractions with concomitant electromyographic and torque recordings. At baseline, maximal voluntary torque decreased signifi…