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At least 1,261 records · Page 70Linked to original sources
PubMed1991

The onset of disuse-related potassium efflux to succinylcholine.

Disuse atrophy of skeletal muscle produces resistance to nondepolarizing relaxants and increased potassium efflux after the administration of succinylcholine. These changes appear to be due to development of perijunctional and/or extrajunctional receptors (up-regulation). In this study, the authors searched for the earliest detectable appearance of increased potassium efflux in beagles in whom disuse atrophy was simulated. Seven beagles underwent unilateral cast immobilization of a hind limb. Between 4 and 42 days, they periodically received succinylcholine 0.25 mg/kg while anesthetized with thiamylal and nitrous oxide. Sequential bilateral femoral venous samples showed that the casted limb did not manifest potassium release greater than the upper limit of normal (1 mEq/l) until cast immobilization periods of 14 days or longer. When this occurred, the increase in the potassium concentration in the femoral venous blood of the casted limb exceeded that from the noncasted limb by at least 0.7 mEq/l (P less than 0.01). The range for the onset of this response after casting was 14-42 days, the mean 27.2 days, and the standard deviation 9.8 days. These findings imply that up-regulation of skeletal muscle receptors, associated with exaggerated potassium efflux after administration of succinylcholine, is dependent on progressive development of extrajunctional receptors over surface membrane areas beyond the endplate.

Animals↗
PubMed1985

Progressive hemifacial atrophy: a case report.

A case of a 28-year-old Caucasian female with progressive hemifacial atrophy and atrophy of the rhomboid muscles on the ipsilateral side is reported. The literature on this condition and its treatment is reviewed.

Adult↗
PubMed1998

GDNF expression is increased in denervated human skeletal muscle.

Glial cell line derived neurotrophic factor (GDNF) is a potent trophic factor for several subpopulations of neurons including motor neurons. Two different transcripts of the GDNF gene (GDNF633 and GDNF555) have been detected in various tissues, including skeletal muscle. Denervation leads to an upregulation of GDNF633 in rat skeletal muscle, indicating that GDNF is involved in the response of skeletal muscle to denervation and possibly in reinnervation. To determine the role of GDNF in human neuromuscular disease, we investigated the expression of both transcripts in normal and denervated muscle and in muscle biopsies from Duchenne muscular dystrophy patients. GDNF expression levels were analyzed by competitive RT-PCR in 38 muscle specimens. Levels of both transcripts were significantly elevated in denervated muscle compared to normal and dystrophic muscle. Morphometric analysis of muscle-fiber calibers and its correlation to GDNF expression revealed that higher levels of GDNF were expressed in rapidly-progressive neurogenic atrophy, including four amyotrophic lateral sclerosis (ALS) cases, compared to cases of chronic atrophy. In dystrophic muscle, transcript levels were not significantly altered compared to normal controls. These data indicate that denervation, but not dystrophy, enhances GDNF expression in human skeletal muscle. Thus, the increase of GDNF expression is part of the reaction of human skeletal muscle to denervation caused by motor nerve lesion. GDNF might act on regenerating nerve fibers during muscle fiber reinnervation.

Cells, Cultured↗
PubMed1993

A case of parietal atrophy: etiopathogenetic evaluation.

We report on the case of a patient presenting a muscle atrophy of the right hand and a left parietal neoplastic lesion rapidly progressing. EMG findings showed no signs of denervation nor sensory-motor conduction impairments. Parietal lesions might interrupt sensory control mechanisms of motor activity.

Brain Neoplasms↗
PubMed1997

[A case of spastic tetraplegia with medullo-cervical atrophy].

A 48-year-old man, who had spastic tetraplegia and a marked atrophy of the medulla oblongata and upper cervical cord, was reported. He began to walk in spastic fashion at the age of 12 years, and was diagnosed as spastic paraplegia. His father, whose onset of the disorder was 35 years old and died of pneumonia at the age of 69 years, manifested symptoms and a course, both resembling those of the present patient. Generalized weakness progressed gradually, and the patient was confined to bed in his forties. On admission, he showed markedly increased tendon reflexes and pathological reflexes in all the extremities. Muscular weakness was severe in the neck, trunk and extremities, and mild in the facial muscles. There were neither bulbar sign, significant respiratory failure nor fasciculation of muscles. A needle EMG examination revealed no apparent neuropathic findings. MR imaging showed a marked atrophy of the medulla oblongata and upper cervical cord, which was not considered to be secondary to vascular or infectious diseases. Though sensory evoked potentials showed no response at the latencies of central nervous components, visual evoked potentials, brainstem auditory evoked response and blink reflex were normal. This case might represent an unknown hereditary degenerative disease with autosomal dominant inheritance.

Humans↗
PubMed2001

Advances in the genetics of progressive myoclonus epilepsy.

The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the exception of autosomal dominant dentatorubral-pallidoluysian atrophy and mitochondrial encephalomyopathy with ragged red fibers (MERRF). In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances.

Cystatin B↗
PubMed1989

Chorea-acanthocytosis: report of a family and neuropathological study of two cases.

We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum beta-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.

Acanthocytes↗
PubMed1979

[Health resort treatment of children with progressive muscular dystrophy].

The results of a complex treatment at health resorts of 126 children with Duchenne myopathy and 84 children with spinal amyotrophies at the age of 5-15 years are given. The complexes included carbon-dioxide sulfurated hydrogen baths, mud application (with different localization depending on a form of the disease), fresh baths, oxygenotherapy and therapeutic physical training. The authors revealed good tolerance to procedures and the positive dynamics of the main clinical manifestations of the disease, confirmed by the electrophysiological and biochemical studies. As a result of the treatment it was possible to achieve progressiveness of the disease in all patients at different periods (from 1 month to 1 year). The authors give recommendations for the use of treatment at health resorts as a necessary link in the general chain of rehabilitative measures for children with various forms of progressive muscular dystrophies.

Adolescent↗
PubMed1990

Neuromuscular diseases: evaluation with high-frequency sonography.

Forty-four patients with clinically suspected neuromuscular disease and 12 healthy volunteers underwent high-frequency ultrasound examination of the rectus femoris, vastus medialis, vastus lateralis, and biceps brachii muscles, and the number of perimysial septa was determined. These numbers and muscle/soft-tissue ratios of the lower extremity were compared. Findings were correlated with results of muscle biopsy in all patients with suspected disease. Using the number of perimysial septa in the lower extremity, the authors found significant differences between the muscles of healthy volunteers and those of patients with Duchenne muscular dystrophies, other muscular dystrophies, and spinal muscular atrophies: The receiver operating characteristic curve showed that an average of 12 perimysial septa within 1 cm of muscle is the ideal cutoff value to differentiate subjects without morphologic changes from those with pathologic findings. The authors conclude that this measurement is useful for differentiation of neuromuscular diseases and may be a noninvasive, reproducible means with which to evaluate disease progression.

Adolescent↗
PubMed2005

MRI of rotator cuff muscle atrophy in relation to glenohumeral joint incongruence in brachial plexus birth injury.

PURPOSE: To evaluate rotator cuff muscles and the glenohumeral (GH) joint in brachial plexus birth injury (BPBI) using MRI and to determine whether any correlation exists between muscular abnormality and the development of glenoid dysplasia and GH joint incongruity. MATERIALS AND METHODS: Thirty-nine consecutive BPBI patients with internal rotation contracture or absent active external rotation of the shoulder joint were examined clinically and imaged with MRI. In the physical examination, passive external rotation was measured to evaluate internal rotation contracture. Both shoulders were imaged and the glenoscapular angle, percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the greatest thickness of the subscapular, infraspinous and supraspinous muscles were measured. The muscle ratio between the affected side and the normal side was calculated to exclude age variation in the assessment of muscle atrophy. RESULTS: All muscles of the rotator cuff were atrophic, with the subscapular and infraspinous muscles being most severely affected. A correlation was found between the percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the extent of subscapular muscle atrophy (r(s)=0.45, P=0.01), as well as between its ratio (r(s)=0.5, P P=0.01). Severity of rotator cuff muscle atrophy correlated with increased glenoid retroversion and the degree of internal rotation contracture. CONCLUSIONS: Glenoid retroversion and subluxation of the humeral head are common in patients with BPBI. All rotator cuff muscles are atrophic, especially the subscapular muscle. Muscle atrophy due to neurogenic damage apparently results in an imbalance of the shoulder muscles and progressive retroversion and subluxation of the GH joint, which in turn lead to internal rotation contracture and deformation of the joint.

Adolescent↗
PubMed1985

Focal glomerulosclerosis associated with Charcot-Marie-Tooth disease.

This report describes a new case of the rare association of focal glomerulosclerosis with a peroneal muscular atrophy of the Charcot-Marie-Tooth type. The young patient was admitted with a nephrotic syndrome. A terminal renal failure rapidly developed. Numerous chronic nephropathies were known in the patient's family. The ultrastructural study of the renal biopsy revealed a focal fusion of the epithelial foot processes, thickened and pleated mesangial basal laminae, vacuolated podocytes and small intranuclear clear inclusions. The Charcot-Marie-Tooth disease was of the hypertrophic type. According to a review of the literature and to further information concerning the follow-up of the 5 previously reported cases, the prognosis of the nephropathy is guarded with progression to end-stage renal disease in a few years. This case represents the 6th reported case of focal glomerulosclerosis associated with Charcot-Marie-Tooth disease.

Adolescent↗
PubMed2005

Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD).

OBJECTIVE: The aim of the study was to analyse electromyographic changes in Emery-Dreifuss muscular dystrophy (EDMD) that are atypical for myopathy. Our special interest was focused on high amplitude polyphasic motor unit potentials (MUPs), also termed irregular MUPs. METHODS: We studied 21 EDMD patients with the diagnosis based on clinical data, DNA analysis and immunohistochemical muscle studies. Rectus femoris muscle biopsies were investigated in all affected patients. Electrophysiological investigations involved quantitative concentric needle electromyography (CNEMG) of biceps brachii (BB) and rectus femoris (RF) muscles. Simulation studies were performed to approximate the number, diameter and distribution of muscle fibers, which contribute to irregular MUPs. RESULTS: The EMG data in EDMD were compatible with myopathy. Irregular MUPs showed longer duration, larger area, size index and higher amplitude then simple ones (P < 0.05). The approximation of features of muscle fibers contributing to irregular MUP also indicated smaller (<45 microm) and larger (>55 microm) diameters than normal (50 +/- 5 microm). Muscle biopsy specimens revealed the variable muscle fiber size due to atrophy, hypertrophy, and muscle fiber splitting. CONCLUSIONS: Irregular MUPs recorded in EDMD are due to hypertrophied and atrophied fibers as well as increased fiber density. They reflect reorganization of the motor unit in a slow progression myopathic process (muscle fiber hypertrophy and splitting). SIGNIFICANCE: Irregular MUPs in EDMD most probably reflect increased variability of the muscle fiber size.

Adolescent↗
PubMed1997

Segmental distribution of muscle weakness in SMA III: implications for deterioration in muscle strength with time.

We examined 26 spinal muscular atrophy type III (SMA III) patients with SMNt deletions, searching for possible segmental distribution of muscle weakness. In those with disease duration of < or = 11 years, the weakest muscles were upper lumbar innervated ones in the lower extremities. In the upper extremities, early involvement of triceps muscle suggested the possibility of lower cervical (C7) onset. Electrophysiologically, weaker muscles had a more severe reduction in the recruitment pattern, particularly in the lower extremities. However, severe reduction in recruitment was sometimes also observed in clinically strong muscles. In patients with disease duration of > or = 16 years and regardless of disease duration, in those with disease onset at < or = 3 years of age, weakness and severe electrophysiological changes were more widespread. These findings may suggest a progression in muscle weakness with time. When compared to 12 patients with Becker muscular dystrophy (BMD), early stage SMA III with weak iliopsoas-strong gluteus maximus stood in contrast to BMD with weak gluteus maximus-strong iliopsoas.

Adolescent↗
PubMed2005

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report.

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.

Aged↗