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)

Patients with Duchenne muscular dystrophy (DMD) and severe congestive heart failure (CHF) frequently feel mental anguish due to severe mental and physical restriction. Since therapy is not efficacious enough, their quality of life is often disturbed during the terminal stage. We retrospectively evaluated the treatment and care for 11 cases of DMD with severe CHF in our hospital. All cases had unrest and anxiety, which were successfully treated with benzodiazepines and haloperidol. In many cases, patients' families craved for patients' comfort without mental and physical pain. Nine cases resulted in death and 2 cases survived. We also sent a questionnaire to doctors of muscular dystrophy wards of 27 Japanese national hospital, inquiring about therapy protocol, monitoring system, intravenous nutrition, limitation of feeding/recreation/visitors, management of pain/anxiety/sedation, and cardiopulmonary resuscitation (CPR). Sixty-eight doctors answered the questionnaire. Forty-seven doctors (69%) had the experience to treat DMD patients with severe CHF. The majority of them monitored electrocardiography, SpO2 and blood pressure. About a half adopted intravenous nutrition. If recovery was expected, limitation of feeding/recreation/visitors was based mainly on discussion with the patients and their families. If recovery was impossible, the limitation was decided according to their wishes. Nonsteroidal anti-inflammatory drugs were properly used for pain, and minor and major tranquilizers for sedation. Morphine was also used. Only one doctor adopted positive CPR, while the others answered "do not CPR" or "do CPR according to the wish of patients' families". The burden to patients and their families during treatment is unavoidable but should be reduced as much as possible. Medical staffs should ask themselves about the problems to support the families as well as patients repetitively.
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PMID:[How we have treated and cared patients with Duchenne muscular dystrophy and severe congestive heart failure]. 1602 89

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) was identified only 18 years ago and is caused by a (CCTG)n expansion in ZNF9/CNBP. When transcribed into CUG/CCUG-containing RNA, mutant transcripts aggregate as nuclear foci that sequester RNA-binding proteins, resulting in spliceopathy of downstream effector genes. Despite clinical and genetic similarities, DM1 and DM2 are distinct disorders requiring different diagnostic and management strategies. DM1 may present in four different forms: congenital, early childhood, adult onset and late-onset oligosymptomatic DM1. Congenital DM1 is the most severe form of DM characterized by extreme muscle weakness and mental retardation. In DM2 the clinical phenotype is extremely variable and there are no distinct clinical subgroups. Congenital and childhood-onset forms are not present in DM2 and, in contrast to DM1, myotonia may be absent even on EMG. Due to the lack of awareness of the disease among clinicians, DM2 remains largely underdiagnosed. The delay in receiving the correct diagnosis after onset of first symptoms is very long in DM: on average more than 5 years for DM1 and more than 14 years for DM2 patients. The long delay in the diagnosis of DM causes unnecessary problems for the patients to manage their lives and anguish with uncertainty of prognosis and treatment.
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PMID:Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. 2480 43