Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled “Beyond Borders: Myotonic Dystrophies – A European Perception”.

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Core Clinical Phenotypes in Myotonic Dystrophies

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.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.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. 

Myotonic Dystrophy

Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed.The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS).Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained from the electronic medical records.The following parameters appeared as significant predictors of DM2 diagnosis: cataracts (beta = 0.410, p < 0.001), myotonia on needle EMG (beta = 0.298, p < 0.001), hand tremor (beta = 0.211, p = 0.001), positive family history (beta = 0.171, p = 0.012), and calf hypertrophy (beta = 0.120, p = 0.043). In the final DM2-EDS, based on the beta values, symptoms were associated with the following values: cataracts (present 3.4, absent 0), myotonia (present 2.5, absent 0), tremor (present 1.7, absent 0), family history (positive 1.4, negative 0), and calf hypertrophy (present 1.0, absent 0). A cut-off value on DM2-EDS of 3.25 of maximum 10 points had a sensitivity of 84% and specificity of 81% to diagnose DM2.Significant predictors of DM2 diagnosis in the neurology outpatient unit were identified. We made an easy-to-administer DM2-EDS score for early diagnosis of DM2. 

/pdf/clinical-score-for-early-diagnosis-of-myotonic-dystrophy-3huekvtq.pdf

Clinical score for early diagnosis of myotonic dystrophy type 2

ABSTRACT OBJECTIVE This article discusses the epidemiology, diagnosis, treatment, and prevention of neurologic complications of red blood cell, platelet, and plasma cell disorders. LATEST DEVELOPMENTS Cerebrovascular complications can occur in patients with blood cell and platelet disorders. Treatment strategies to prevent stroke are available for patients with sickle cell disease, polycythemia vera, and essential thrombocythemia. A diagnosis of thrombotic thrombocytopenic purpura should be considered in patients with neurologic symptoms, hemolytic anemia, thrombocytopenia, mild renal insufficiency, and fever. Plasma cell disorders can be associated with peripheral neuropathy, and classification of the monoclonal protein type and neuropathy aid in diagnosis. Patients with POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) syndrome can present with arterial and venous neurologic events. ESSENTIAL POINTS This article discusses the neurologic complications of blood cell disorders and the most recent advances in prevention and treatment.

Hematologic Disorders and the Nervous System

This article discusses the epidemiology, diagnosis, treatment, and prevention of neurologic complications of red blood cell, platelet, and plasma cell disorders.Cerebrovascular complications can occur in patients with blood cell and platelet disorders. Treatment strategies to prevent stroke are available for patients with sickle cell disease, polycythemia vera, and essential thrombocythemia. A diagnosis of thrombotic thrombocytopenic purpura should be considered in patients with neurologic symptoms, hemolytic anemia, thrombocytopenia, mild renal insufficiency, and fever. Plasma cell disorders can be associated with peripheral neuropathy, and classification of the monoclonal protein type and neuropathy aid in diagnosis. Patients with POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) syndrome can present with arterial and venous neurologic events.This article discusses the neurologic complications of blood cell disorders and the most recent advances in prevention and treatment. 

V. Rako cevi c-Stojanovi c, S. Peri c, J. Pe sovi c, I. Sen cani c, M. Bo zi c, S. Svikovi c, M. Brku sanin and D. Savi c-Pavi cevi c Neurology Clinic, Clinical Center of Serbia, University of Belgrade School of Medicine, Belgrade, Center for Human Molecular Genetics, University of Belgrade Faculty of Biology, Belgrade, Ophthalmology Department, Clinical Centre Zvezdara, Belgrade, and Ophthalmology Clinic, Clinical Centre of Serbia, Belgrade, Serbia

Genetic testing of individuals with pre‐senile cataract identifies patients with myotonic dystrophy type 2

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Genetic testing of individuals with pre‐senile cataract identifies patients with myotonic dystrophy type 2