Search results for " muscle weakness"
showing 8 items of 8 documents
Dermatomyositis induced by the secretion of Phyllomedusa bicolor or Kambô frog - A case report
2020
The Amazonian Kambô frog, Phyllomedusa bicolor, is commonly known for the potential benefits of its secretion. The Kambô ritual consists in applying the toxin directly to a freshly burnt skin area, since it is believed by natives and shamans to purify and strengthen the body and mind of the user. We describe a 33-year old female with a history of periodic use of Kambô toxin who presented with a 3-week course of asthenia, malaise, myalgia, and proximal muscle weakness predominantly in the lower limbs. She had elevated muscle enzymes and an abnormal electromyography. We used the 2017 European League Against Rheumatism and American College of Rheumatology classification criteria to establish t…
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 …
Intermediate Filament Diseases: Desminopathy
2008
Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations. The age of disease onset and rate of progression may vary depending on the type of inheritance and location of the causative mutation. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulba…
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020
Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.
Muscular performances at the ankle joint in young and elderly men.
2005
The effect of aging on mechanical and electromyographic characteristics of ankle joint muscles was investigated in 11 young (mean age 24 years) and 12 elderly (mean age 77 years) males. Maximal and submaximal isometric voluntary torques were measured during ankle plantarflexion and dorsiflexion. Electromyographic activities of triceps surae and tibialis anterior muscles were recorded. The elderly group developed equal maximal dorsiflexion torques (42 vs 45 N.m, p >.05), but in plantarflexion, the elderly group was weaker (80 vs 132 N.m, p <.001) and presented a decreased twitch amplitude (11 vs 16 N.m) and lower coactivation (8% vs 15%) than that of the young adults. We established a linear…
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
2015
International audience; The reduced diameter of skeletal myofibres is a hallmark of several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, we investigate the role of HACD1/PTPLA, which is involved in the elongation of the very long chain fatty acids, in muscle fibre formation. In humans and dogs, HACD1 deficiency leads to a congenital myopathy with fibre size disproportion associated with a generalized muscle weakness. Through analysis of HACD1-deficient Labradors, Hacd1-knockout mice, and Hacd1-deficient myoblasts, we provide evidence that HACD1 promotes myoblast fusion during muscle development and regeneration. We further demons…
Assessment of quadriceps muscle weakness in patients after total knee arthroplasty and total hip arthroplasty: methodological issues.
2013
The aim of this exploratory study was to verify whether the evaluation of quadriceps muscle weakness is influenced by the testing modality (isometric vs. isokinetic vs. isoinertial) and by the calculation method (within-subject vs. between-subject comparisons) in patients 4-8months after total knee arthroplasty (TKA, n=29) and total hip arthroplasty (THA, n=30), and in healthy controls (n=19). Maximal quadriceps strength was evaluated as (1) the maximal voluntary contraction (MVC) torque during an isometric contraction, (2) the peak torque during an isokinetic contraction, and (3) the one repetition maximum (1-RM) load during an isoinertial contraction. Muscle weakness was calculated as the…
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…