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PubMed1984

[Family with Roussy-Lévy syndrome].

In five members belonging to a Swiss kinship the typical signs of Roussy-Levy's syndrome are described, such as disturbances of gait and of standing, areflexia, foot deformities, slight muscular weakness and atrophies, minimal sensory disturbances and the typical course of the disease. The patients have been examined electrophysiologically and disturbances of sensory conduction velocity and sensory nerve action potentials are described. The question whether Roussy-Lévy's syndrome represents a disease entity or not, is discussed. The authors feel that the syndrome belongs to HMSN type I.

Adult↗
PubMed2003

Inhalation toxicity of propineb. Part II: Results of mechanistic studies in rats.

Previous repeated inhalation exposure studies revealed two independent organotropic effects of inhaled propineb dust: One was restricted to the lung, the other to muscle weakness of hindlimbs. These effects were believed to be causally related to the principle decomposition products of this type of dithiocarbamate in the biological milieu and related to zinc and carbon disulfide. Two mechanistic 1-wk inhalation studies were performed, each focusing on one of these findings. The 7 x 6-h/day repeated-exposure inhalation study analyzed whether the nature of the response occurring at the alveolar level is "adaptive" or "early adverse" and whether soluble zinc is the causative agent. Groups of 18 female rats were exposed nose-only to mean concentrations of 0, 1.1, 5.5, and 25.8 mg propineb/m(3) and 6.9 mg ZnO/m(3). On postexposure days 1, 3, and 15 the time course of responses was analyzed by bronchoalveolar lavage (BAL), including quantification of Zn and metallothionein (MT) in BAL cells. Clinical evidence of muscular weakness was investigated separately in 20 female Wistar rats exposed to 70 mg propineb/m(3) on 5 consecutive days (6 h/day), followed by a 2-wk postexposure period. Clinical signs, body weights, and feed and water consumption were recorded as frequently as technically feasible. Fifty percent of rats received an oral cysteine supplementation to verify/refute the hypothesis that the incapacitation observed in previous studies is the cause of emaciation and associated impairment of CS(2) detoxification. The findings of the first study are consistent with this hypothesis, namely, that soluble Zn triggers a series of pulmonary events that is consistent with the homeostasis of this essential metal. It is concluded, accordingly, that the adjusted maximal workplace level for ZnO is also valid for propineb to preclude Zn-mediated responses to occur in the lung. With respect to muscular effects, this mechanistic study demonstrates further that the increased detoxification capacity afforded by oral supplementation of cysteine mitigates markedly the toxic potency of propineb. Procedural variables specific to the inhalation bioassay appear to be decisive for the elicitation of muscular effects. The major variable is considered to be the large drop in body weights associated with each exposure session and the concomitantly decreased uptake of essential nutritional factors (e.g., cysteine) involved in the detoxification of this compound. Accordingly, the muscular deficits elicited by high concentrations of propineb are viewed to be secondary effects in an animal species likely to be more susceptible to this type of change than humans (Pauluhn & Rosenbruch, 2003).

Administration, Inhalation↗
PubMedDate not supplied

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

We report clinical, EEG and neuroimaging findings of three patients in two Italian families with merosin-negative congenital muscular dystrophy (CMD), drug-resistant occipital epilepsy, diffuse persistent cerebral white matter changes and focal cortical dysplasia. Clinical and epilepsy histories, EEG and neuroimaging findings were very similar in all patients. Seizures started in childhood and mainly consisted of periodic spasms, a particular type of partial seizure characterized by clusters of epileptic spasms. The motor expression of the spasms was very mild so that they had been frequently missed or misinterpreted as non-convulsive generalized absence seizures. Interictal EEG showed occipital spike-waves and bilateral synchronous slow spike-wave discharges. Ictal EEG showed prolonged periodic sequences of slow waves with associated fast rhythm complexes, characteristic of periodic spasms. Two patients had normal intelligence, one patient presented moderate mental retardation. Focal cortical dysplasia in the posterior areas of the brain, in addition to marked diffuse white matter alterations, was detected in the magnetic resonance images of all patients. Findings in these patients indicate that in merosin-negative CMD brain involvement can include cortical dysplasia, in addition to white matter changes. In such cases the brain damage can lead to a childhood-onset localization-related symptomatic occipital epilepsy. Epileptic seizures and cortical dysplasia can be, however, difficult to detect in CMD. The clinical semiology of epileptic seizures may in fact be modified because of muscular weakness. This implies that epilepsy may be misdiagnosed or even missed and EEG-polymyographic recordings may be necessary to identify it. Similarly, cortical dysplasia may be very localized and visible by neuroimaging only if it is carefully investigated on the basis of epileptological and EEG-polymyographic findings.

Child↗
PubMed1996

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.

Three type III spinal muscular atrophy (SMA) families are described in which the same deletion pattern for SMN gene and flanking loci is apparent in both affected and unaffected siblings. Deletions extending to include the NAIP gene are reported in one sibship. All three individuals in which SMN and/or NAIP deletions were detected showed the same haplotypes for SMA linked microsatellite markers as their affected sibs. The three index cases had a SMA III with early onset (1.5-2 yr) and became chairbound at the age 4, 5 and 20 yr. The three haploidentical sibs were given a clinical severity score. One of them showed no sign of the disease at the age of 4 yr and was considered "unaffected"; a 35-yr-old female, who had no symptoms but showed tongue fasciculations and hand tremor was considered "asymptomatic"; a 34-yr-old female, who had mild muscular weakness since the age of 24, was rated "mild". These observations demonstrate the presence of a continuum of clinical variability within SMA III families. These data suggest that, in these three families at least, the SMA phenotype is caused or influenced by another gene(s) additional to SMN.

Adult↗
PubMed1978

Myoadenylate deaminase deficiency: a new disease of muscle.

Five cases of a new disease presented with muscular weakness or cramping after exercise; three of the cases also had an elevated serum creatine phosphokinase. Muscle biopsies were histologically normal but lacked adenylate deaminase by stain and solution assay, while the erythrocyte isozyme was normal. A clinical diagnostic test has been developed, and the human enzyme was separated by acrylamide-gel electrophoresis.

AMP Deaminase↗
PubMed1989

Muscle pathology in Marinesco-Sjögren syndrome.

Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical for MSS: bilateral cataracts from infancy, mental retardation, severe cerebellar atrophy, multiple skeletal abnormalities and hypergonadotropic hypogonadism. EMG demonstrated a myopathic pattern and serum CK was mildly elevated. Muscle biopsies from these 3 patients showed myopathic changes including a marked variation in fiber size, an increased number of fibers with centralized nuclei, and scattered necrotic and regenerating fibers. Fiber type analysis with myosin ATPase staining showed type 1 fiber predominance, type 2B fiber deficiency and mild increase in type 2C fibers. Muscle biopsy changes and the clinical course indicate that our MSS patients suffered from a chronic dystrophic process similar to that in congenital muscular dystrophy.

Adenosine Triphosphatases↗
PubMed1994

Case report 828: Plexiform neurofibroma of the tibial nerve invading the medial and lateral gastrocnemius muscles and plantaris muscle.

A 5-year-old boy presented with a several-year history of swelling of his calf and muscular weakness. MRI demonstrated abnormal signal and diffuse enlargement of the gastrocnemius muscle. Pathological examination revealed plexiform neurofibroma, and the diagnosis of neurofibromatosis was subsequently made. The manifestations of neurofibromatosis and the peripheral nerve sheath tumors encountered in this disease are discussed. Special attention is paid to the MR features of the plexiform neurofibroma which is characteristic of this disorder.

Child, Preschool↗
PubMed1981

[Poisoning by adulterated edible oil].

In spring 1981, thousands of people living in Madrid were intoxicated by adulterated edible oil containing oleoanilide and probably other toxic substances. Due to increasing international travel Swiss doctors may also be faced with this particular disease. The case is reported of a 28-year-old woman who presented in May 1981 with a highly febrile influenza-like syndrome after consuming the adulterated oil while in Madrid. In the following weeks she developed myopathy, characterized by muscular weakness and pain, aldolase elevation and typical electromyographic disturbances, as well as edema and general discomfort. The white cell count showed eosinophilia up to 2170/mm3. Five months later, the symptoms are still continuing. Other members of the family have been exposed to the oleoanilide and exhibited various abnormalities which constitute a new clinical syndrome different from previously reported intoxications by industrial oil.

Acetanilides↗
PubMed1984

A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis.

A 38-year-old woman, a product of consanguineous parents, had been observed to have limited neck flexion and elbow joints contracture since early childhood. In addition, she experienced humeropelvic muscular weakness and atrophy, so that she was unable to walk by age 27. At 34 years of age, she required a permanent pacemaker to treat complete atrioventricular block with ventricular bradycardia. A myocardial biopsy confirmed cardiomyopathy. The clinical features of the present case are similar to those of the Emery-Dreifuss syndrome; however, this case may be inherited through an autosomal recessive trait.

Adult↗
PubMed2005

[Fluvastatin-induced dermatomyositis].

BACKGROUND: Dermatomyositis is a rare inflammatory dermatosis for which an iatrogenic origin has been described in very few cases. We report a case of dermatomyositis occurring after fluvastatin intake. CASE REPORT: A 76-year-old male patient sought medical attention for a photodistributed rash and considerable muscular weakness present for one month. Two months earlier, fluvastatin had been introduced following the discovery of dyslipidemia. Serum creatine phosphokinase levels were elevated. Histological examination of a muscle biopsy was consistent with a diagnosis of dermatomyositis. Investigation for neoplasia and associated autoimmune disease proved negative. All clinical and laboratory abnormalities diminished spontaneously without recourse to corticosteroids within one month of the final intake of fluvastatin. After a follow-up period of three years, no recurrence was observed and no signs of neoplasia or connectivitis were found. DISCUSSION: Iatrogenic dermatomyositis has only been reported in rare cases. Certain drugs have been incriminated, notably D-penicillamine. Six cases of drug-induced dermatomyositis have been described with statins: simvastatin, atorvastatin, pravastatin and lovastatin. Of these cases, only one resolved spontaneously after withdrawal of the drug alone without use of corticosteroids. Our case concerns intake of fluvastatin, an HMG-CoA reductase inhibitor with rare though well-known muscular side effects: elevated serum CPK, myalgia and rhabdomyolysis. Six cases of polymyositis have also been reported. Ours is the first case of dermatomyositis described with this category of statins. It is also the second reported case showing improvement after withdrawal of the lipid-lowering agent and without corticosteroids. Thus in cases of dermatomyositis, this iatrogenic picture should be sought routinely.

Adrenal Cortex Hormones↗
PubMed1984

Thyrotoxic myopathy associated with subacute thyroiditis.

We report a case of subacute thyroiditis complicated by thyrotoxic myopathy. Previously thyrotoxic myopathy has been described as being associated with Graves' disease. The patient in this study was a 35-year-old man who developed proximal dominant muscular weakness and atrophy during the course of subacute thyroiditis. His myopathic symptoms regressed as his serum thyroxine and triiodothyronine levels returned to normal, however it took a relatively long period of time for them to do so. This suggests that marked myopathy may develop even in cases of subacute thyroiditis if the thyrotoxic state persists for a long period of time.

Adult↗
PubMed1971

Electrophysiological studies of neuromuscular transmission in hereditary 'motor end-plate disease' of the mouse.

1. Studies have been made on isolated nerve-muscle preparations from mice with hereditary ;motor end-plate disease'.2. Spontaneous fibrillation was observed in the isolated preparation.3. Muscles gave only a weak twitch or failed to contract in response to nerve stimulation. Direct stimulation of muscles caused a twitch response which had a slower time course than normal. Peripheral nerve conduction was normal.4. Intracellular recording from single muscle fibres showed that with longer survival of the animal an increasing proportion of fibres failed to show end-plate potentials or action potentials in response to nerve stimulation.5. Miniature end-plate potentials (m.e.p.p.s) were recorded in almost all muscle fibres including those in which neuromuscular transmission had failed. The frequency of m.e.p.p.s was greater than normal, was not increased by tetanic stimulation of the nerve but was increased by a raised external potassium concentration.6. Muscle fibres were supersensitive to acetylcholine.7. The results suggest that the muscular weakness in this disease is due to the failure of nerve action potentials to invade motor nerve terminals so that muscle fibres become ;functionally denervated'.

Acetylcholine↗
PubMed1983

Myopathy in acromegaly. A case study.

The muscle findings in a patient with acromegaly of 20 years duration are presented. The patient demonstrated mild muscular weakness and atrophy. Standard needle electromyography was normal and single fiber electromyography showed normal motor unit densities. Muscle biopsy revealed normal size type-I muscle fibers, but three populations of type-II fibers - hypertrophied, atrophied, and normal-sized fibers. Hypertrophy of type-II fibers may be the direct result of the excess growth hormone, while the atrophic fibers may result from the disturbance of other endocrine function.

Acromegaly↗
PubMed1990

[Clinical and ultrastructural studies on 8 cases of methamidophos toxicologic myopathy].

Clinically, there was pain or numbness in the lower limbs at first; then followed by muscular weakness and symmetrical wasting of the small muscles of the hands and lower limbs. Electromyography showed myogenic changes in all the 8 cases and biopsies indicated atrophy of muscle fibers. The most prominent ultrastructural change was presence of abnormal accumulation of myofibers with regeneration and necrosis. There was decrease of mitochondria and glycogen even disappearance of M--line or Z--line. The pathogenesis is considered due to cell--mediated--immunity and direct toxic effect.

Adult↗
PubMed1985

Hypokalemic myopathy associated with primary aldosteronism and glycyrrhizine-induced pseudoaldosteronism.

Enzymatic and histological features of muscular disorders associated with primary aldosteronism and glycyrrhizine-induced pseudoaldosteronism were studied. Among 10 patients with primary aldosteronism and 3 patients with pseudoaldosteronism, 5 patients were admitted to our hospital because of muscular weakness. The serum potassium (K) level was 1.86 +/- 0.21 mEq/l in a myopathy group on admission, a value significantly less than that of the 2.74 +/- 0.10 mEq/l in a non-myopathy group (p less than 0.01). Serum creatine phosphokinase (CPK), glutamate-oxyloacetate transaminase (GOT), and lactate dehydrogenase (LDH) were increased in the myopathy group compared to the non-myopathy group; serum CPK was 1412.6 +/- 902.6 vs. 22.8 +/- 5.0 mU/ml, serum GOT was 186.4 +/- 75.3 vs. 24.2 +/- 5.4 mU/ml (p less than 0.05), and serum LDH was 1133.4 +/- 377.3 vs. 387.6 +/- 42.5 mU/ml (p less than 0.05) in the groups with and without myopathy. Analysis of CPK isozymes revealed that the MM type exceeded 95%. The elevated serum CPK, GOT and LDH rapidly decreased to the normal range and muscular strength completely improved within 6 to 13 days after hospitalization, when the serum K level remained below than normal. Light microscopic finding of damaged muscle showed the diffuse necrosis and vacuolization of muscle fibers. Electron microscopic study clearly demonstrated complete dissolution of myofilaments with disappearance of sarcoplasmic reticulum and T-tubules in the necrotic muscle fibers. These results indicate that muscular lesions may occur in primary aldosteronism and pseudoaldosteronism when the serum K level is decreased to below 2.0 mEq/l. This myopathy is not periodic paralysis but hypokalemic myopathy. The mechanism by which K deficiency causes muscular damage remains unknown.

Adult↗
PubMed1975

Familial type I fiber atrophy.

An 11-year-old boy and his 40-year-old mother with congenital, non-progressive muscular weakness and wasting are described. Muscle biopsies from both cases showed a selective atrophy of Type I fibers without any structural change except for very few nemaline bodies. Probably, the neuromuscular disorder in this family is identical to the congenital fiber type disproportion described by Dubowitz and Brooke, but familial Type I fiber atrophy (hypotrophy, or hypoplasia) is considered to be a more appropriate descriptive term for a family with such distinct histochemical characteristics.

Adult↗
PubMed2000

Congenital muscular dystrophy.

Congenital muscular dystrophy (CMD) is a rare heterogeneous disease found in the oriental population, especially the occidental type of CMD. We report a case of a one-year-old infant who presented with early onset hypotonia, muscular weakness, delayed motor development and normal intelligence. A muscle biopsy revealed dystrophic muscle fibers. A high creatine kinase (CK) level, mostly of the MM type, was also noted. Further study of brain images showed hyperintense lesions in the white matter area. The patient showed the clinical and laboratory findings characteristic of CMD, more likely to be of the occidental type. Further genetic or histopathologic studies, especially merosin investigation, are suggested for improved classification and prognosis prediction.

Humans↗
PubMed1980

Mixed nemaline-mitochondrial "myopathy".

A 4-year-old boy suffering from a nonprogressive muscular weakness had a muscle biopsy which ultrastructurally showed large aggregates of nemaline bodies and mitochondria in myofibers; occasional concentric lamellated bodies were present as well. The mitochondria were mostly at the periphery of collections of nemaline bodies, less commonly in their central portions. The light microscopic features differed from those of either nemaline or mitochondrial myopathy and were somewhat reminiscent of multicore disease. Evidence suggestive of possible neurogenic origin of both rods and mitochondria is reviewed.

Biopsy↗