1/23. hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case.A 25-year-old man was admitted to the hospital because of painful muscle cramps and action myospams of subacute onset and 6 weeks' duration. No myotonia could be demonstrated objectively and his deep tendon reflexes showed no prolongation of the relaxation phase. serum creatinine was raised but creatinine clearance was normal. serum levels of aldose, CPK, ASAT and ALAT were increased but ordinary light microscopy revealed no histological signs of muscle disease in a quadriceps biopsy. ECG showed a prolonged PQ interval and flat T waves in the left precordial leads. Laboratory tests of thyroid function revealed intensive hypothyroidism, and high titers of circulating thyroid antibodies were demonstrated. During 2 1/2 months of thyroid therapy, the muscle symptoms gradually disappeared completely and the patient could return to work. By that time the serum enzymes and the ECG had normalized. Despite the lack of objective signs of myotonia, we consider that the very dominant subjective muscle symptoms, severe enough to prevent the patient from performing his ordinary manual work and completely reversible on thyroid therapy, justify the designation of hypothyroid myopathy. The question is raised whether the case represents an early form of Hoffmann's syndrome.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/23. Contraindication of magnesium sulfate in a pregnancy complicated with late-onset diabetes mellitus and sensory deafness due to mitochondrial myopathy.A primipara affected by late-onset diabetes and sensory deafness because of mitochondrial myopathy was hospitalized for threatened preterm delivery. magnesium sulfate was started for tocolysis, resulting in general muscle damage, although the mitochondrial myopathy did not deteriorate during pregnancy. magnesium sulfate may be contraindicated in pregnancy with mitochondrial myopathy.- - - - - - - - - - ranking = 7keywords = myopathy (Clic here for more details about this article) |
3/23. Repetitive nerve stimulation and muscle membrane excitability: case report and review.Few muscle disorders can be diagnosed by repetitive nerve stimulation (RNS). Decreasing compound muscle action potentials (CMAP) on high frequency RNS is recorded in muscle channelopathies, and particularly in sporadic and recessive congenital myotonia. In this myopathy, decreasing CMAP after exercise test and RNS are the most sensitive electrophysiological in detecting muscle membrane dysfunction and are considered highly informative even in mildly symptomatic patients. We report on a patient with excercise-induced diffuse muscle cramps and myalgia; muscle biopsy and laboratory investigations were normal. Decreasing CMAP on high frequency RNS suggested muscle membrane conduction anomalies and, though clinical and electrical myotonia was not detected, the neurophysiological finding raised the suspicion of congenital myotonia and addressed to molecular investigation.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
4/23. Internalised capillaries, neuromyopathy and myalgia.Internalised capillaries are described in the muscle fibres of two adult males who complained of exertional myalgia. In one patient, "bundles" of internalised capillaries were found in 2% of the Type 1 fibres and many of the Type 1 fibres exhibited non-specific cytoarchitectural changes. The other had hereditary motor and sensory neuropathy (HMSN) Type 2 and his muscle biopsy exhibited the more conventional single and double internalised capillaries in 3% of the muscle fibres in addition to the anticipated neuropathic changes. Electron microscopy revealed the presence of paracrystalline inclusions in the mitochondria of muscle of both patients. dystrophin was normal on both immunogold/silver staining and immunoblotting. Sixty five of 77 recorded patients with evidence of internalisation of capillaries have been males and 10 are known to have complained of muscle cramps or severe myalgia. An ischaemic pathogenetic predisposition is proposed as a possible stimulus to the capillary internalisation, formation of paracrystalline mitochondrial inclusions and myalgia.- - - - - - - - - - ranking = 4keywords = myopathy (Clic here for more details about this article) |
5/23. Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases.An atypical presentation of facioscapulohumeral dystrophy (FSH) is described, where the presence of a positive Beevor's sign led to genetic testing and subsequent probable diagnostic confirmation. This prompted evaluation of a further 68 patients for the presence of Beevor's sign. Among these, 19/20 patients with FSH had a positive Beevor's sign, compared with 2/28 with other muscle diseases, and 0/20 in a neurological control group. Beevor's sign should be considered as an additional criterion for the diagnosis of FSH.- - - - - - - - - - ranking = 0.50482169599829keywords = dystrophy (Clic here for more details about this article) |
6/23. Statin-associated myopathy with normal creatine kinase levels. Case report from a Norwegian family.Troseid M, Henriksen OA, Lindal S. Statin-associated myopathy with normal creatine kinase levels - case report from a Norwegian family. APMIS 2005;113:635-7.Recent reports suggest that statins may cause myopathy with normal creatine kinase levels. We describe four related patients with statin-associated muscle symptoms and normal creatine kinase levels. In two out of the four patients (mother and son), pathological findings on EMG suggested myopathy, and muscle biopsies showed evidence of mitochondrial pathology. A third patient (daughter) had slight myopathic findings on EMG and muscle biopsy, but not enough to be classified as pathological. In a fourth patient, there were no pathological findings. creatine kinase levels were normal and symptoms diminished after discontinuation of drugs in all four patients. Our findings are consistent with other reports of statin-associated myopathy with normal creatine kinase levels. An inherited vulnerability, possibly a mitochondrial pathology, might cause or aggravate symptoms in some patients.- - - - - - - - - - ranking = 8keywords = myopathy (Clic here for more details about this article) |
7/23. early diagnosis and treatment reverse clinical features in Hoffmann's syndrome due to hypothyroid myophaty: a case report.hypothyroidism is a frequently diagnosed endocrine disorder that has characteristic clinical signs and symptoms. Myopathy is one of the manifestations of hypothyroidism and relatively common. We report a case of Hoffmann's syndrome due to hypothyroid myopathy documented by clinical features, laboratory findings and positive response to thyroid hormone replacement therapy. A man, age of 22, was diagnosed as having primary hypothyroidism at the age of five, had been describing progressive weakness in his arms and legs for two months and complained about generalized muscle cramps and pain. He was diagnosed with Hoffmann's syndrome with low levels of thyroid hormones and high levels of muscle enzymes. After six months of thyroid hormone replacement therapy, both the clinical picture and laboratory findings were remarkably improved.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/23. Steroid-responsive tubular aggregate myopathy.We report a man with an acute myalgia/cramp syndrome and tubular aggregates on his muscle biopsy. He was placed on prednisone and was found to be exquisitely sensitive to the drug, with changes of only 5 mg precipitating recurrence of symptoms. He was eventually tapered off all steroids, without symptoms, and repeat biopsy showed no tubular aggregates. We recommend similar patients be given a trial of high-dose steroids.- - - - - - - - - - ranking = 4keywords = myopathy (Clic here for more details about this article) |
9/23. adult phosphorylase b kinase deficiency.phosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly, and in 2 adults with cramps on exertion. We observed 2 additional adults with phosphorylase b kinase deficiency: Patient 1, aged 58, had progressive, predominantly distal weakness since age 46 but no cramps on exertion; Patient 2, aged 26, had cramps on exertion since age 6 but no weakness. Lactate production on ischemic exercise was impaired only in Patient 1. The serum creatine kinase level was elevated in both. Muscle specimens showed focal glycogen excess in both, and a necrotizing myopathy and mild denervation atrophy in Patient 1. Muscle phosphorylase b kinase activity was 0.5% and 8.9% of the lowest control value in patients 1 and 2, respectively; erythrocyte phosphorylase b kinase activity was normal in both; liver phosphorylase b kinase activity, measured in Patient 1, was also normal. Other glycolytic enzymes in muscle were preserved in both.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
10/23. McArdle's disease: two clinical expressions in the same pedigree.Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
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