Myopathy and spasms

In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.

Weakness of the neck extensors can lead to "dropped head syndrome", a condition of progressive cervical kyphosis in which a patient is unable to hold their head up against the force of gravity. This condition can be associated with structural abnormalities of the spine as found in ankylosing spondylitis and vertebral fractures. Neuromuscular disorders, such as myasthenia gravis, muscular dystrophies, inflammatory myopathies, and motor neuron disorders such as amyotrophic lateral sclerosis (ALS) have also been reported as etiologies of dropped head syndrome...

Eye diseases rank third in the structure of morbidity among children aged 0 to 17 years. Acquired myopathy is the leading abnormality in the structure of morbidity, with diminished vision being in 28% of preschool children and in every two school graduates. Myopia is attended by the signs of systemic connective tissue dysplasia and impaired circulation due to autonomic dysfunction. Early diagnosis and correction of autonomic dysfunction is the basic line of the prevention and treatment of school myopia. Treatment of children can be organized in the medical room of a school...

BACKGROUND: Osteomalacia is a common diagnosis in the Kohistani women presenting with aches and pains. This study was conducted to assess calcium and Phosphate levels in Kohistani women with osteomalacia. METHODS: 50 diagnosed cases of Osteomalacia selected from amongst the women presenting with body aches were included in the study. History regarding age, marital status, parity, dietary habits, socioeconomic status etc was taken. RESULTS: The median age was 23 years...

Defects in fatty acid oxidation are a source of major morbidity and are potentially rapidly fatal. Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic encephalopathy or Reye-like syndrome in infancy with secondary seizures and potential developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy. As all of the known conditions are inherited as autosomal recessive diseases, there is often a family history of sudden infant death syndrome in siblings...

In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling...

As well as pheochromocytoma, in which it has been established that an excess of circulating catecholamines is responsible for the development of catecholamine-induced acute myopathy, some rare cases have been reported of a similar cardiac incident following intense emotional stress. In this study, the case has been examined of a 56-year old female with no history of cardiovascular disorder who presented with intense, nitro-resistant prolonged chest pain mimicking an acute coronary syndrome immediately following a situation involving major psychological stress...

BACKGROUND: Cytochrome oxidase-deficient mitochondrial myopathies represent a heterogeneous group of muscle disorders. Physical stress can cause life-threatening risks related to rhabdomyolysis or respiratory compromise. CASE: A 21-year-old primigravida with cytochrome C oxidase-deficient mitochondrial myopathy who presented for obstetric care at 8 weeks' gestation complained of muscle fatigue and spasm after exertion. The increased metabolic demands of pregnancy led to worsening pain, muscle fatigue, and ultimately complete immobility...

Defects in mitochondrial enzymes, such as pyruvate dehydrogenase and cytochrome oxidase, cause hereditary disorders which lead to modifications in cellular pH due to the accumulation of pyruvate and lactic acid. Mitochondrial diseases include severe neonatal diseases and less severe forms of adult diseases. We report the case of lactic acidosis in a newborn girl who was delivered at 36 weeks of gestation and who died 3 months after birth. Her family history revealed a relative with tetraparesis and mental retardation...

Mitochondrial and metabolic myopathies constitute a group of disorders characterised by abnormal muscular metabolism of energy. Most of these disorders are genetically transmitted. Recent progress in the field has led to spectacular advances in their classification and the understanding of the mechanisms involved, particularly in mitochondrail myopathies. Diagnosis can be made et any age; the patient can present manifestations that can be misleading for the clinician. Lipid myopathies and glycogenoses usually present as a myopathic syndrome associated with cramps, spasm and myalgia, with fatigue on effort...

The mitochondrial myopathies are a rare group of conditions affecting the respiratory chain and oxidative phosphorylation. The anesthetic management of a 6-year-old girl with complex I respiratory chain deficiency requiring surgery for a fractured hip is presented and discussed. Potential problems were masseter spasm, tendency to develop lactate acidosis, and malignant hyperthermia susceptibility. These problems were avoided by the use of a laryngeal mask airway, allowing the patient to spontaneously ventilate; caudal analgesia; and maintenance of anesthesia with a proprofol infusion...

We report a family with three generations affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle spasms may appear. The gene is expressed with differing intensity in each individual. Myopathic electromyographic alterations are only found in functionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers...

At present the in vitro caffeine-halothane contracture test is the only test to predict susceptibility to malignant hyperthermia (MH) with acceptable sensitivity and specificity. Anaesthesia is necessary for the excision of muscle bundles from the vastus lateralis muscle. MATERIAL AND METHODS. Between 1983 and 1991, muscle biopsies were taken from 350 patients, 233 children and 117 adults. In 197 cases, trigger-free general anaesthetics were supplemented by ventilation, via mask in 124 cases and via tracheal intubation in 73 cases...

Malignant hyperthermia is a pharmacogenetic disorder of skeletal muscle that may cause a life-threatening reaction during administration of general anesthesia. It is inherited in an autosomal dominant pattern and, at least in some families, is caused by a mutation in the ryanodine receptor-calcium-release channel gene on chromosome 19. Malignant hyperthermia displays heterogeneity, making the development of a simple screening test difficult. Malignant hyperthermia may be caused by other biochemical defects affecting intramyoplasmic calcium...

The classification of neuromuscular diseases with regard to the use of muscle relaxants is based on the localisation of the particular abnormality. Three types of syndromes can be differentiated: (1) denervation states; (2) disturbances of neuromuscular transmission; and (3) intracellular disease. Succinylcholine should be avoided in all types of denervation syndrome due to the possibility of life-threatening hyperkalaemia. The time frame during which succinylcholine must be avoided following a traumatic denervation or burn begins 24 h after the event...

UNLABELLED: We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 years. The disease was rapidly progressive with development of truncal and limb ataxia, spastic paraparesis, muscle weakness and wasting, pigmentary retinal degeneration and sensorineural hearing loss. She had short stature and vitiligo patches, hirsutism, anaemia, diabetes mellitus and exocrine pancreatic dysfunction...

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No abstract text is available yet for this article.

No abstract text is available yet for this article.

Doxorubicin may effect a more permanent chemomyectomy and chemodenervation (by retrograde "suicide transport") of the orbicularis oculi muscle than the chemodenervation produced by botulinum A toxin used for the treatment of blepharospasm. Graded doses (0.4 mg and 1.0 mg) of doxorubicin hydrochloride (2 mg/mL) were injected into the eyelids and antecubital and popliteal skin of rabbits in an attempt to evaluate the drug's efficacy and safety. Histologic changes in the orbicularis oculi muscle included necrosis and decreased mass...