Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied the cases of fifteen patients who had central core disease, a non-progressive congenital myopathy that is usually inherited as an autosomal dominant trait. As infants, the patients had poor muscle tone and developmental delay, and as adolescents and adults, they had varying degrees of proximal muscle weakness and tended to use the Gower maneuver. The most common musculoskeletal problems were dislocation or subluxation of the hip, pes planus, and hypermobility of the joints. The most serious orthopaedic problems were in the hips: ten patients had a total of nine dislocations and six subluxations, nine being present at birth and six developing later. Only nine hips were stable after the initial treatment, and there was a propensity for hip-joint contractures. Scoliosis and patellar instability were also seen. Although patients who have central core disease have been reported to be at increased risk for malignant hyperthermia, this did not occur in our patients.
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PMID:Orthopaedic aspects of central core disease. 340 75

A 13 year-old girl with scoliosis and central core disease is reported. She was noted to have mild psychomotor developmental delay since early infancy. Scoliosis with minimal muscle weakness was noted at about five years old. The neurological examination disclosed absent knee jerk. The spine MRI showed no significant finding. The serum CK revealed 518 U/L. The muscle biopsy obtained from the quadriceps femoris muscle showed Type 1 fiber atrophy and predominance, as is commonly seen in congenital myopathies. Under nicotinamide adenine dinucleotide dehydrogenase (NADH) and succinate dehydrogenase (SDH) stains, core structures were identified and the diagnosis of central core disease (CCD) was made. Since kyphoscoliosis usually becomes prominent as muscle weakness progresses to loss of ambulation in other myopathies, the disproportionate spinal involvement in central core disease appears to be a striking feature. We suggest that all patients with idiopathic scoliosis deserve a thorough neurological evaluation if congenital myopathies are suspected. Muscle biopsy should also be recommended for a confirmatory diagnosis even if only minimal muscle weakness present. Besides, early detection of CCD helps us to identify the population who are at a higher risk for malignant hyperthermia.
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PMID:Central core disease associated with scoliosis: report of one case. 929 32

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant hyperthermia susceptibility (MHS) is a frequent complication. CCD and MHS are allelic conditions both due to (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes of the RyR protein are considered the main pathogenetic mechanism(s). The diagnosis of CCD is based on the presence of suggestive clinical features and central cores on muscle biopsy; muscle MRI may show a characteristic pattern of selective muscle involvement and aid the diagnosis in cases with equivocal histopathological findings. Mutational analysis of the RYR1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to anticipate susceptibility to potentially life-threatening reactions to general anaesthesia. Further evaluation of the underlying molecular mechanisms may provide the basis for future rational pharmacological treatment. In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome.
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PMID:Central core disease. 1750 18

Freeman-Sheldon syndrome is characterized by typical dysmorphic features of the face (microstomia with putting lips and H-shaped dimpling of the chin, giving the appearance of a whistling face) and symmetrical hands and feet defects (camptodactyly, joint contractures). The intelligence quotient is usually within the normal range. Mutations in the MYH3 gene at 17p13 have been shown to cause the syndrome, inherited as an autosomal dominant trait. Two patients with clinical diagnosis of Freeman- Sheldon syndrome, confirmed by molecular study were described in this article. Additionally, clinical aspects, differential diagnosis and genetic basis of the disease were described as well as medical problems concerning patients with Freeman-Sheldon syndrome were discussed such as anesthetic aspects, malignant hyperthermia and pulmonary complications after surgery. The authors highlight the significance of dysmorphic features in patients with developmental delay and congenital defects as well as indicate the role of multidisciplinary approach in the diagnostic and therapeutic process.
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PMID:[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study]. 2251

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and biceps brachii in comparison to adjacent muscles. In addition to a variable prominence of central nuclei, muscle biopsy from 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1-related centronuclear myopathy by highlighting common and variable clinical, histological, and imaging findings in these patients.
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PMID:Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. 2881 89