1/12. McArdle's disease in childhood: report of a new case.McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/12. A congenital dermal sinus presenting the muscle fasciculation and hypertrophy.OBJECTIVE: To report unique and unknown clinical features of muscle fasciculation and muscle hypertrophy in a case of congenital dermal sinus. patients: A 16-year-old girl presented with continuous fasciculation, often cramp, and hypertrophy of the left calf muscle. The radiography showed spina bifida of L4, L5 and S1. MRI revealed dermal sinus tract from the skin dimple of the back to the dura mater, and connected to the intradural inclusion tumor. At surgery the inclusion tumor contained many short hairs, and the cauda equina were severely adherent. microdissection of the tumor and the adhesion was performed. At 2 years after surgery fasciculation decreased but continued; however, painful cramps of the calf muscle do not occur. CONCLUSIONS: Short hairs of dermoid and the adherence might be irritative to the cauda equina. The hyperactivity of the stimulated motor neuron may cause the muscle fasciculation leading to hypertrophy of the calf muscle.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
3/12. 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 = 387.73297980972keywords = myotonia (Clic here for more details about this article) |
4/12. 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 = 195.86648990486keywords = myotonia, congenita (Clic here for more details about this article) |
5/12. A rare form of painful nondystrophic myotonia.OBJECTIVE: In this paper we report a painful nondystrophic myotonia which has not been previously described. pain is a rare symptom in myotonia. We report a myotonic disorder in a 34-year-old woman and her 14-year-old daughter. Painful cramps occur during and after exercise in the mother, and both patients can demonstrate unusual contractions in the tongue. In the present study we try to evaluate the mechanisms behind the unique finding of trains of high amplitude of positive waves, not seen in the earlier known myotonic conditions. methods: Clinical investigations and electromyography with single and dual channel recordings and muscle morphometry were performed. RESULTS: The electromyographic recordings reveal positive waves, fibrillation potentials and myotonic discharges. In addition, extraordinary findings were made of trains of high frequency positive potentials with very high amplitudes and with conduction block along the muscle fibres. CONCLUSIONS: In this new form of myotonia with likely dominant heredity, the specific finding of trains of high amplitude positive waves indicates ephaptic transmission within bundles of neighbouring muscle fibres.- - - - - - - - - - ranking = 452.35514311135keywords = myotonia (Clic here for more details about this article) |
6/12. Disabling foot cramping in a runner secondary to paramyotonia congenita: a case report.An 18-year-old male runner was referred to the authors' clinic with a 1-year history of cramping left foot pain. His symptoms developed insidiously when he increased his training, with an onset of severe left foot pain and tightness that would develop after about 20 minutes of exercise. The more he continued to run, the more the symptoms were aggravated and evolved to the toes curling with intrinsic muscle spasm. This symptom was easily provoked when he was exposed to cold temperature. A family history of similar symptoms was revealed in his sister and uncle. physical examination including neurologic examination was normal. Diagnostic workup revealed generalized myotonia. According to the history, physical examination, and diagnostic workup, his diagnosis was considered to be most compatible to paramyotonia congenita. He was given phenytoin, which lessened his symptoms and allowed him to continue running with minimal symptoms, but he stopped running because he was not able to maintain mileage high enough to compete successfully.- - - - - - - - - - ranking = 392.73297980972keywords = myotonia, congenita (Clic here for more details about this article) |
7/12. Neuromyotonia. Report of a case.The authors report the case of a 67-year-old man, affected by diffuse spasms evoked by ischemia and voluntary and reflex movements electromyographically characterized by an intense repetitive activity. There was also a modest and diffuse muscle wasting with lower limbs areflexia; no myokymia. The EMG showed severe neurogenic changes and a considerable reduction of the MMCV in the lateral popliteal nerve area.- - - - - - - - - - ranking = 258.48865320648keywords = myotonia (Clic here for more details about this article) |
8/12. Idiopathic generalized myokymia.Idiopathic generalized myokymia (IGM) is a rare, heterogeneous, and poorly understood syndrome. We present analysis of 75 reported cases in the world literature. IGM affects men and women equally, with a mean age of onset 29 /- 19 years. patients' common presenting complaints are stiffness (60%), cramps (12%), weakness (12%), and muscle twitching (4%). family history is positive in 30%. In addition to generalized clinical myokymia (92%), abnormal neurologic findings include: hyporeflexia (70%), weakness (45%), grip myotonia (39%), and calf hypertrophy (16%). Electrical activity consisting of spontaneous continuous motor unit activity and/or electrical myokymia was documented in all patients. When electrical myokymia was observed (66%), the grouped discharges where irregular and had an interburst frequency of 2-300 Hz. Both phenytoin and carbamazepine are effective treatments. We conclude that IGM has a wide spectrum of symptoms and severity and should be considered in all patients that present with stiffness, cramps, or muscle twitching. EMG greatly aids in diagnosis.- - - - - - - - - - ranking = 64.622163301621keywords = myotonia (Clic here for more details about this article) |
9/12. Generator sites for spontaneous activity in neuromyotonia. An EMG study.A 16-year-old female patient with symptoms and signs compatible with neuromyotonia was studied with various neurophysiological tests and with muscle biopsy. Nerve conduction studies revealed signs of axonal motor neuropathy. EMG showed denervation in distal muscles, and moderate neurogenic changes in other muscles. Abundant spontaneous motor unit activity was recorded in all muscles. This activity did not disappear upon proximal nerve blockade with local anaesthetics. Based on the shape of spontaneous discharges and their behaviour on nerve stimulation and during voluntary effort, the site of generation was suggested. This varied for different discharges, from proximally in the nerve, to various sites along the intramuscular nerve tree. In some axons there were signs of conduction block proximal to the generation site for the spontaneous discharges. Different axons showed various degrees of abnormality; local hyperexcitability triggering new impulses only after the passage of a preceding impulse, increased hyperexcitability generating spontaneous activity, total impulse blocking, and finally axonal degeneration. Treatment with dihydantoin reduced the spontaneous activity with concomitant clinical improvement.- - - - - - - - - - ranking = 323.1108165081keywords = myotonia (Clic here for more details about this article) |
10/12. myotonia congenita with painful muscle cramps.A sporadic Japanese case of myotonia congenita with painful muscle cramps is reported. Electromyographic examinations disclosed myotonic discharge with dive bomber sounds at insertion, and high-amplitude, high-frequency motor unit potentials during the muscle cramps. Biopsied muscle specimens and EMG findings showed non-specific mild myopathic changes. There was no abnormal expansion of CTG repeat within the myotonic dystrophy gene. This patient's disorder closely resembles Becker's myotonia congenita Type II though the family history of was non contributory.- - - - - - - - - - ranking = 135.24432660324keywords = myotonia, congenita (Clic here for more details about this article) |
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