Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Snoring and obstructive sleep apnea are a frequent problem not only in adults, but also in children and adolescents, as can be seen from current epidemiological data. The epidemiology, etiology, diagnosis, and management of obstructive sleep apnea syndrome (OSAS) in adults have been adequately established on the basis of evidential data. As a result of this, both physicians and the public are increasingly aware of OSAS in adults. Although there are numerous parallels between pediatric and adult OSAS, the situation in children differs that in adults. There is a greater variety of symptoms in children with OSAS, diagnosis is often more difficult with serious consequences for growth and development of children. Treatment of OSAS in children is also different from that of the adult patient. There are many possible causes for the development of obstructive sleep apnea in children. These include hypertrophy of the tonsils and syndromes such as Down syndrome, Pickwickian syndrome, Prader-Willi syndrome or Marfan syndrome. OSAS can, however, also be the result of obesity, midfacial dysplasia, retro- or micrognathia, allergic rhinitis or muscular dystrophy. Epidemiological data presented in the literature concerning the incidence of OSAS in children is extremely varied. This wide range is probably due to the fact that snoring may be misdiagnosed as OSAS. The diagnosis of OSAS in children may only be made by considering clinical history (such as rate of growth, tendency to fall asleep during the day, sleep disturbances, susceptibility to infection, etc.), polysomnography (if possible during several nights) and accompanying instrumental diagnosis including cephalometry or laryngoscopy. One of the problems of polysomnography in childhood is that performance and interpretation of the results have not yet been standardized or evaluated for different age groups. Treatment depends on the cause of OSAS and require multidisciplinary management involving the pediatrician, pediatric or adolescent psychiatrist, ear, nose, and throat specialist, maxillofacial surgeons, and neurosurgeons. Adenotonsillectomy (ATE) is the therapy generally chosen if the child has adenoidal vegetations and/or tonsillar hypertrophy. Corrective surgery is possible for rare malformation syndromes. Nocturnal masks for continuous positive airway nasal pressure or procedures for mask respiration are effective in children, but are only used in exceptional cases, such as when ATE is contraindicated or when symptoms of OSAS remain after surgery. The success of pharmacological treatment of OSAS in children has not been evaluated in controlled clinical trials.
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PMID:Obstructive sleep apnea syndrome in children: a state-of-the-art review. 1518 12

Myotonic muscular dystrophy (MMD) is a rare autosomal dominant disorder that can complicate anesthetic management of patients. MMD is characterized by progressively worsening muscle loss and weakness, cardiac conduction abnormalities, cardiomyopathy, restrictive lung disease, obstructive sleep apnea, and delayed gastric emptying. Patients presenting with MMD for any surgical procedure present a management challenge to the anesthesiologist. Several reports of airway loss due to medication-mediated respiratory depression, sudden death due to dysrhythmias, aspiration of stomach contents, and prolonged intubation have been reported. We present a case series of three family members with MMD type 1 who presented for electrophysiologic assessment of the cardiac conduction system and possible pacemaker insertion. While there are reports of anesthetic management of patients with myotonic dystrophy for various procedures, our report is unique in that we were able to demonstrate variations of anesthetic management based on the procedure and variation in disease phenotype-differing severity between family members.
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PMID:Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. 2935 32

Type 1 myotonic dystrophy (MD) is a rare inherited disease which presents with skeletal muscle weakness and myotonia. Involvement of smooth muscles is also common and mainly manifests in the gastrointestinal tract. We report a case of type 1 MD who presented with dysphagia and was found to have unique esophageal manometry findings. A 57-year-old male patient presented with dysphagia for the last few months. Past medical history was significant for type 1 myotonic muscular dystrophy, gastroesophageal reflux disease, diaphragmatic paralysis, and obstructive sleep apnea. Both his father and brother died in their 50s because of unclear respiratory problems. He was a former smoker and did not drink alcohol. Review of systems was unremarkable. His neurological examination was significant for bilateral facial muscle weakness and mild ptosis. He had atrophy and weakness of the distal upper and lower extremities. Deep tendon reflexes were absent. Upper endoscopy and 24-hour esophageal pH testing were non-diagnostic. Finally, esophageal manometry revealed elevated lower esophageal sphincter (LES) pressure, elevated upper esophageal sphincter (UES) pressure, and very week peristalsis of the esophageal body. Esophageal involvement is common in type 1 MD manifesting with dysfunction of UES, esophageal body, and LES. Manometry usually describes a reduced resting tone of the UES and LES. The patient had elevated LES pressure and week peristalsis of the esophageal body consistent with achalasia. He also had an elevated UES pressure consistent with cricopharyngeal achalasia. This is the opposite of what is expected in type 1 MD.
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PMID:Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: a case report. 3230 42