1/20. Cardiac involvement in proximal myotonic myopathy.Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/20. A case of ocular neuromyotonia with tonic pupil.A 48-year old woman with hypertension experienced painful oculomotor nerve palsy. After surgery for a giant aneurysm of the internal carotid artery in the cavernous sinus, phasic constrictions of the pupil developed. Two years later, this phenomenon disappeared and was replaced by intermittent involuntary cyclic spasms elevating the ptosed lid. These cyclic lid movements were not elicited with any eye movement or by increased accommodation. The pupil now manifested the pharmacologic features of a tonic pupil. The explanation for this unique case of ocular neuromyotonia is based on a misdirection phenomenon, possibly caused by ephaptic transmission.- - - - - - - - - - ranking = 0.38960549110406keywords = ocular (Clic here for more details about this article) |
3/20. Neuromyotonia of the abducens nerve after hypophysectomy and radiation.The clinical signs of the rarely encountered ocular neuromyotonia consist of transient involuntary tonic contraction and delayed relaxation of single or multiple extraocular muscles, resulting in episodic diplopia. With a mean time delay of 3.5 years, this motility disorder frequently follows tumor excision or adjuvant radiation near the skull base. Ocular neuromyotonia may reflect inappropriate discharge from oculomotor neurons with unstable cell membranes because of segmental demyelinization by tumor compression and radiation-induced microangiopathy. In the present paper, the authors present the case of a 53-year-old patient with a history of transsphenoidal hypophysectomy and adjuvant radiotherapy, who underwent strabismus surgery for abducens palsy.- - - - - - - - - - ranking = 0.15584219644162keywords = ocular (Clic here for more details about this article) |
4/20. 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 = 0.2keywords = myopathy (Clic here for more details about this article) |
5/20. Myotubular myopathy associated with cataract and electrical myotonia.A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
6/20. adult-onset acquired oculomotor nerve paresis with cyclic spasms: relationship to ocular neuromyotonia.PURPOSE: To describe the characteristics and significance of acquired oculomotor nerve paresis with cyclic spasm. METHOD: Retrospective case series of two patients with a history of previous skull base irradiation for intracranial tumor who developed double vision and were found to have oculomotor nerve paresis with cyclic spasm. Both patients underwent a complete neuroophthalmologic assessment, including testing of eyelid position, pupillary size and reactivity, and ocular motility and alignment during both the paretic and spastic phases of the condition. RESULTS: Both patients developed unilateral lid retraction and ipsilateral esotropia with limitation of abduction during the spastic phase of the cycle, with ipsilateral ptosis, exotropia, and variable limitation of adduction during the paretic phase. The cycles were continuous and were not induced or altered by eccentric gaze. CONCLUSIONS: Cyclic oculomotor nerve paresis with spasms may occur years after irradiation of the skull base. This condition is different from the more common ocular motor disturbance that occurs in this setting-ocular neuromyotonia. However, in view of the similarity between these two disorders, it seems likely that they are caused by a similar peripheral mechanism.- - - - - - - - - - ranking = 0.54544768754569keywords = ocular (Clic here for more details about this article) |
7/20. Twitch response in a myopathy with impaired relaxation but no myotonia.A patient with slow muscle relaxation but without accompanying motor unit or myotonic electrical activity had a unique staircase twitch response to repeated nerve stimulation. During 1-Hz stimulation, twitches recorded by measurement of the ankle dorsiflexor group displayed progressively increasing relaxation times with successive stimuli (37% increase) unlike the progressively decreasing relaxation time of the normal response (12-37% decrease). The response may be diagnostic of this unusual myopathy; the test methods are noninvasive and easily tolerated.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/20. Cardiac involvement in myotonic muscular dystrophy.Cardiac illness in myotonic muscular dystrophy (MyD) is infrequent, but subclinical cardiac involvement in MyD is very common (found in 42 of 46 subjects) and may be responsible for sudden death. In this series, we found ECG abnormalities in 72%, left ventricular dysfunction in 70%, mitral valve prolapse in 37%, and sudden death in 4%. Four deaths during the study period were due to acute left ventricular failure, one to sepsis and respiratory insufficiency, and one was unexplained. We did not find ominous bradyarrhythmias or atrioventricular block, evidence of congestive heart failure, noninvasive evidence of coronary artery disease, or any correlation of type or amount of cardiac involvement with any clinical parameter such as age, sex, or severity of systemic dystrophy. We feel tachyarrhythmias may play as important a role in sudden death of myotonic muscular dystrophy subjects as bradyarrhythmias, and coronary artery disease in addition to cardiac dystrophy may produce arrhythmias and myocardial dysfunction in myotonic muscular dystrophy. In addition, some subjects have an unusual form of resting left ventricular dysfunction which improves with exercise. The most important problem in the clinical management of myotonic muscular dystrophy subjects is sudden death, and the solution does not appear to be empiric ventricular pacing. Our recommendations for prophylaxis of sudden death in myotonic muscular dystrophy are noninvasive investigation of coronary artery disease in subjects with significant risk factors, with angiography and surgery if indicated: detailed evaluation of syncopal and presyncopal events, including electrophysiologic testing, with pacemaker or antiarrhythmic drug therapy if indicated; and consideration of ventricular pacing of asymptomatic subjects if severe bradycardia or marked intraventricular conduction delay develops during follow-up, serial 12-lead ECGs. The documentation of tachyarrhythmias during sudden death and syncopal episodes in myotonic muscular dystrophy subjects makes ventricular pacing alone an uncertain modality for prevention of sudden death in subjects with only mildly lengthened PR or QRS intervals, and suggests a combination of pacemaker and antiarrhythmic drug therapy for the myotonic muscular dystrophy subject with syncope of no apparent cause.- - - - - - - - - - ranking = 9.1187811727534keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/20. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts.We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in dna from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.- - - - - - - - - - ranking = 0.9527710000811keywords = myopathy, dystrophy (Clic here for more details about this article) |
10/20. Myotonic myopathy with painful muscle contractions and decrease of symptoms by cold.Myotonic reaction and paresis accompanied by painful muscle contractions limited to the upper limbs, which decrease remarkably in the cold, were observed in a 29 year old man. The histological investigation revealed minimal non-specific signs of myopathy. The biochemical studies of muscular tissue contained a normal amount of myophosphorylase, acid maltase and glycogen. Ischemic work induced normal elevation of venous lactate. The activities of CPK, LDH and SGOT in the blood serum were occasionally increased. The EMG showed typical myotonic bursts and electrical silence during painful muscle contractions. Repetitive high frequency stimulation demonstrated a clear initial increase of the amplitude of action potentials followed by a decrease in the contracted muscle. The father of the patient suffered from dystrophia myotonica. This coincidnece suggests that this myotonic myopathy is a variant of dystrophia myotonica.- - - - - - - - - - ranking = 1.2keywords = myopathy (Clic here for more details about this article) |
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