Activities of daily living in myotonic dystrophy type 1
نویسندگان
چکیده
منابع مشابه
Myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملLife habits in myotonic dystrophy type 1.
OBJECTIVE To describe and compare life habits between individuals with adult and mild phenotypes of myotonic dystrophy; identify life habit dimensions in which accomplishment is compromised; and describe satisfaction related to life habits. DESIGN Cross-sectional study. SUBJECTS A random sample of 200 subjects with myotonic dystrophy (42 mild phenotypes, 158 adult phenotypes). MEASUREMENT...
متن کاملStatus of Daily Living Activities among Older People in Maku
Introduction: One of the most popular methods for evaluating old people’s health condition is to assess their functional practice. The aim of this study was to assess the status of daily living activities among the older people of Maku, Iran. Methods: The present cross-sectional study was accomplished among 216 older people in Maku via simple random sampling. Participant’s subj...
متن کاملOverexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disea...
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ژورنال
عنوان ژورنال: Acta Neurologica Scandinavica
سال: 2020
ISSN: 0001-6314,1600-0404
DOI: 10.1111/ane.13215