Abstract:
:McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salpêtrière Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed by muscle biopsy and genetic investigations. Two patterns of muscle weakness and wasting were noted: (1) proximal and symmetric in 5 patients; and (2) asymmetric, mimicking facioscapulohumeral dystrophy (FSHD) in 4 patients. Computerized tomography scan showed fatty infiltration in the shoulder and pelvic girdle muscles. There was no clear correlation between genotype and the severity of muscle weakness. Proximal muscle weakness appeared after the age of 40 years and affected 11% of subjects in our series of 80 McArdle patients. Among patients over 40 years of age, 37.5% had muscle weakness.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Nadaj-Pakleza AA,Vincitorio CM,Laforêt P,Eymard B,Dion E,Teijeira S,Vietez I,Jeanpierre M,Navarro C,Stojkovic Tdoi
10.1002/mus.21351subject
Has Abstractpub_date
2009-09-01 00:00:00pages
350-7issue
3eissn
0148-639Xissn
1097-4598journal_volume
40pub_type
杂志文章相关文献
MUSCLE & NERVE文献大全abstract::Inflammatory myopathies (IMs) occur relatively frequently in dogs, and, with the exception of masticatory muscle myositis (MMM), have not been characterized. This study analyzed the distribution and types of cellular infiltrates in 21 cases of generalized IM, 3 cases of focal IM (MMM), and 1 case with features of both...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20043
更新日期:2004-06-01 00:00:00
abstract::The aim of this study was to investigate the fasciculation potentials (FPs) in the small-peripheral muscles of the foot and hand and the possible associated factors, in a healthy population. One hundred-twenty-two normal individuals (65 men and 57 women), aged 17-67 years (mean 39.96, SD=12.76) participated in the stu...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199804)21:4<533::aid-mus14
更新日期:1998-04-01 00:00:00
abstract::In median nerve lesions of the hand, electrophysiologic evaluation of the second lumbrical muscle can help to differentiate between lesions of the common digital nerves and the proper digital nerves, as illustrated by this case report. Median nerve conduction studies to the second lumbrical muscle can be performed by ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880090303
更新日期:1986-03-01 00:00:00
abstract::Muscle fatigue or neuromuscular disease may result in central activation failure during maximal voluntary contractions (MVCs). Superimposition of an electrically stimulated contraction during an MVC has been used to detect central activation failure. To determine the most sensitive means of quantitating central activa...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199607)19:7<861::AID-MUS8>
更新日期:1996-07-01 00:00:00
abstract::We studied histopathological changes in the biceps brachii muscle in relation to age and the degree of muscle weakness in 64 patients (aged 11-59 years) with myotonic dystrophy. The proportion of type 1 fibers was unaltered in the adolescent patients compared with control values, but increased with age. The average di...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880170911
更新日期:1994-09-01 00:00:00
abstract::The aim of this study was to define normal ranges of histological features in pediatric muscle in comparison with muscle demonstrating inflammatory changes. Sixteen pediatric muscle biopsy samples, considered normal by standard histology, were analyzed for the presence of inflammatory cells, and the expression of neon...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20898
更新日期:2008-02-01 00:00:00
abstract::The diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) relies primarily on clinical and electrophysiologic examination, but the nerve biopsy findings may be supportive, especially in atypical cases. In order to define the usefulness of nerve biopsy in this disease, we retrospectively studied 44 cons...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10348
更新日期:2003-04-01 00:00:00
abstract::We compared the compound motor action potentials (CMAPs) evoked in the biceps, triceps, and abductor digiti minimi (ADM) muscles by conventional electrical stimulation at Erb's point (EP), and by magnetic coil stimulation of the supraclavicular region in 11 normal subjects. We found that magnetic coil stimulation was ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880150509
更新日期:1992-05-01 00:00:00
abstract::n-Hexane neuropathy was studied in 20 workers exposed for prolonged periods to this solvent, and with urinary 2,5-hexanedione concentrations exceeding the biological exposure index recommended by the American Conference of Governmental Industrial Hygienists (5 mg/L) with a mean of 11.02 mg/L (range 5.3-24.2 mg/L). Alt...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880170904
更新日期:1994-09-01 00:00:00
abstract:INTRODUCTION:Weakness in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) may be caused by decreases in muscle quantity and quality, but this has not been explored. METHODS:Twelve patients with CIDP (mean age 61 years) and 10 age-matched (mean age 59 years) control subjects were assessed for ankl...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26159
更新日期:2018-09-01 00:00:00
abstract::We describe a 58-year-old male with a few years history of multifocal weakness in the upper limbs with minimal to absent sensory complaints. He was diagnosed as having multiple compressive neuropathies, which required repeated decompressive surgeries. Electrodiagnostic studies prior to diagnosis were limited to a few ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199806)21:6<813::aid-mus18
更新日期:1998-06-01 00:00:00
abstract:INTRODUCTION:This investigation aimed to: (1) confirm whether women were more vulnerable to the negative neuromuscular adaptations elicited by muscle unloading and if so, (2) determine which physiological mechanism(s) explain those gender-related differences. METHODS:Healthy young men (20.7 ± 0.3 years) and women (20....
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.23289
更新日期:2012-08-01 00:00:00
abstract::Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction. Skeletal muscle samples were obtained for carnitine analysis from control subjec...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20336
更新日期:2005-09-01 00:00:00
abstract::Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in cho...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.10269
更新日期:2003-01-01 00:00:00
abstract:INTRODUCTION:We examined the extent to which fatiguing cycling exercise in the heat influences contractile function in modulating the force-frequency relationship. METHODS:Before (∽37.0 °C) and after (∽38.5 °C) exercise (ExH) and passive (PaH) hyperthermia, an 8-s train of stimulation at 10, 20, 50, and 100 Hz (2 s pe...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24228
更新日期:2014-11-01 00:00:00
abstract::Patients with an idiopathic increase in serum creatine kinase (CK) levels (hyper-CK-emia) have a benign prognosis, but symptoms may be disabling in daily life. Previous studies have suggested that physical exercise increases the severity of complaints in these patients. We studied whether maximal and submaximal bouts ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10232
更新日期:2002-12-01 00:00:00
abstract::Thyrotropin-releasing hormone (TRH), present in high concentrations in the mammalian spinal cord, exerts excitatory effects on the alpha-motorneuron (AMN) via axodendritic contacts. We used the neurotoxin 5,7-dihydroxytryptamine (5,7-DHT) to deplete TRH from the ventral horn of the spinal cord of adult rats to determi...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880100504
更新日期:1987-06-01 00:00:00
abstract::Peripheral nerve lesions are sometimes associated with focal dystonia. We diagnosed ulnar neuropathy in 28 of 73 (40%) cases of occupational cramp in musicians. Focal slowing of ulnar conduction across the elbow was identified in 15 of 19 (79%) patients using the near nerve technique and in 5 of 17 (29%) patients usin...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880190403
更新日期:1996-04-01 00:00:00
abstract::Since peripheral nerve has a large ischemic safety factor, hypothermia, by reducing metabolic demands, is potentially an efficacious technique to rescue nerve from ischemic fiber degeneration (IFD). We therefore evaluated the influence of temperature on the severity of IFD resulting from a standard ischemic stress. Is...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199602)19:2<203::AID-MUS12
更新日期:1996-02-01 00:00:00
abstract::Normal motor units (MUs) were simulated and their architecture altered to simulate the changes produced by myopathy. The concentric needle electromyographic recordings of motor unit action potentials (MUAPs) from the MUs were then also simulated. These simulated MUAPs showed features that are seen in myopathy: normal ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880120306
更新日期:1989-03-01 00:00:00
abstract:INTRODUCTION:We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. METHODS:Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic (walk/run, jogging in pl...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25039
更新日期:2016-08-01 00:00:00
abstract::The compound muscle action potential (M(MAX)) during a maximal voluntary contraction (MVC) may be measured to determine if the motor nerve has been supramaximally stimulated during the interpolated twitch technique (ITT). Ten males performed isometric knee extension MVCs. M(MAX) for the vastus medialis was recorded du...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21692
更新日期:2010-10-01 00:00:00
abstract::We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and i...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus2
更新日期:1999-08-01 00:00:00
abstract::The purpose of the present study was to establish the relationship between muscle architecture and H-reflex recordings in quadriceps femoris muscle. H-reflexes were elicited in human quadriceps femoris muscle over a broad area of skin to document the shape and amplitude of the H-potentials. This, in combination with r...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880170604
更新日期:1994-06-01 00:00:00
abstract::Focal entrapment of the ulnar nerve occurs most frequently in the region of the elbow, at the ulnar groove or beneath the humeroulnar aponeurosis. Surgical treatment commonly involves transposition of the nerve anterior to the medial epicondyle, in the antecubital fossa. Symptoms may recur after surgery, and, to asses...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20103
更新日期:2004-10-01 00:00:00
abstract::We describe two cases of neuralgic amyotrophy with electrophysiological evidence of conduction block across the lower trunk of the brachial plexus. Low-output impedance stimulation of the cervical spinal roots in combination with collision was used to accurately demonstrate the conduction block. Complete electrophysio...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1041
更新日期:2001-04-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a fatal disease with limited treatment options. Controlled studies are a necessary part of Phase II and Phase III assessments of proposed therapies. Due to the relatively small number of patients with ALS, several study designs have been proposed to improve the efficiency of Phas...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21358
更新日期:2009-06-01 00:00:00
abstract:INTRODUCTION:The immuno-microenvironment of injured nerves adversely affects mesenchymal stem cell (MSC) therapy for neurotmesis. Magnetic resonance imaging (MRI) can be used noninvasively to monitor nerve degeneration and regeneration. The aim of this study was to investigate nerve repair after MSC transplantation com...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26862
更新日期:2020-06-01 00:00:00
abstract::Injection of low-dose arachidonic acid into the rat femoral artery occludes the vasa nervorum of the tibial nerve and produces focal and generalized ischemia with transient effects on nerve conduction. Across a severely ischemic segment of the proximal tibial nerve there is a marked fall in amplitude of the compound m...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880090411
更新日期:1986-05-01 00:00:00
abstract::Superimposed electrical stimulation techniques can be used to detect central activation failure (CAF), that is, incomplete central nervous system recruitment or suboptimal activation of motor units. The purpose of this study was to evaluate the effects of two stimulation parameters on perceived discomfort and torque i...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10289
更新日期:2003-01-01 00:00:00