Myotonic Dystrophy

Abstract

PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research. This article focuses on the diagnosis and management of the disease. In addition, recent advances in characterizing the diverse clinical manifestations and variability of the disease are discussed.RECENT FINDINGS: Studies of the multisystem involvement of myotonic dystrophy, including the most lethal cardiac and respiratory manifestations and their molecular underpinnings, expand our understanding of the myotonic dystrophy phenotype. Advances have been made in understanding the molecular mechanisms of both types of myotonic dystrophy, providing opportunities for developing targeted therapeutics, some of which have entered clinical trials in DM1.SUMMARY: Continued efforts focus on advancing our molecular and clinical understanding of DM1 and DM2. Accurately measuring and monitoring the diverse and variable clinical manifestations of myotonic dystrophy in clinic and in research is important to provide adequate care, prevent complications, and find treatments that improve symptoms and life quality.

Hospital admissions from the emergency department of adult patients affected by myopathies

“…Our center has a longstanding tradition of managing such patients, and their attraction from neighboring regions may have contributed to the enrichment of these patients in our cohort. The second most frequent group was that of patients with myotonic dystrophy, due to the higher prevalence of these conditions but also to the frequent multi‐organ involvement and potential life‐threatening complications [16]. The relatively low number of patients with DMD may be attributable to the fact that a number of young adults are still often followed as part of a transition process in collaboration with the pediatric groups and may have different systems of referrals for direct admissions into inpatient wards without access to ED.…”

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review

“…MD is characterized by myotonia, progressive muscle weakness, and atrophy, and it can be genetically classified into MD 1 (caused by an expanded CTG triplet in DMPK on chromosome 19) and MD 2 (caused by the expansion of a CCTG tetramer in CNBP on chromosome 3). The former is characterized by weakness in the distal predominant limbs and grip myotonia, while the latter is characterized by progressive weakness in the proximal and distal limbs and variable mild grip myotonia ( 4 ). However, a lack of clinical myotonia makes MD less likely.…”

Catastrophic Complications Following Spinal Deformity Surgery in a Patient with Myotonic Dystrophy

“…The main symptoms of MD type 1 are ptosis, temporal wasting, weakness of facial and oropharyngeal muscles, neck flexion, respiratory muscles, truncal muscles and distal limb muscles and grip myotonia. The weakness and myotonia of proximal muscles weakness and muscle pain are the main symptoms of the MD type 2 4) . Although we tried to find the family history for the MD, he mother of patient denied the family history related to the MD.…”