Hard to swallow: understanding the lived experience of caregivers for individuals with myotonic dystrophy (DM1) and dysphagiaLaDonna KAKoopman WJRay SLVenance SLCanadian Journal of Neuroscience Nursing / Journal Canadien des Infirmières et Infirmiers en Neurosciences...
Myotonic Dystrophy. Myotonic dystrophyis anautosomal dominant, multisystem disorder that is characterized by progressivemuscle weaknessand wasting (particularly in the lower legs, hands, neck, and face) and results in physical disability;myotonia(involuntary sustained contraction of muscles); cataracts; car...
Mutations in tRNAIle, tRNALys, and tRNASer(UCN) have been associated with encephalomyopathies or non-syndromic deafness. A tRNAAla mutation has been described in a patient with late onset progressive external ophthalmoplegia and dysphagia. A different heteroplasmic G>A mutation at position 5650 ...
1. Dysphagia is present but mild in myotonic dystrophy type 2. [J] . Tieleman AA, Knuijt S, van-Vliet J, Neuromuscular disorders: NMD . 2009,第3期 机译:存在吞咽困难,但在2型肌强直性营养不良中较轻。 2. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2...
; Dystrophia myotonica 1; DM1; Steinert's disease; Myotonic dystrophy type 2 [OMIM #602668]; Dystrophia myotonica 2; DM2; Proximal myotonic myopathy; PROMM Definition and Characteristics Myotonic dystrophy (dystrophia myotonica, DM) is the most common inherited muscular dystrophy in adults. ...
Define myotonic. myotonic synonyms, myotonic pronunciation, myotonic translation, English dictionary definition of myotonic. n. Tonic spasm or temporary rigidity of one or more muscles, often characteristic of various muscular disorders. my′o·ton′ic a
In fact, the adult form of DM1 appears to be a degenerative disease characterized by neurodegeneration and progressive muscular dystrophy, while congenital DM1 is a developmental disorder. This suggests they are caused, as least partially, by distinct mechanisms. Here, we review the clinical ...
Dysphagia and cardiac involvement are often the causes of death in the early stage. To avoid these complications, management of swallowing and careful cardiac control is essential in patients with MD. 展开 关键词: myotonic dystrophy prognosis causes of death dysphagia cardiac involvement ...
Pain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and psychological function were related to pain in adult patients with DM1, and if there were gender differences regarding i
Myotonic dystrophies (DM) are the most common muscular dystrophies in adults, which can affect other non-skeletal muscle organs such as the heart, brain and gastrointestinal system. There are two genetically distinct types of myotonic dystrophy: myotonic dystrophy type 1 (DM1) and myotonic dystroph...