Respiratory dysfunction in myotonic dystrophy type 1: A systematic review

Hawkins, A.; Hawkins, Clare L.; Razak, K. Abdul; Khoo, Tien K.; Tran, Khoa D.; Jackson, R. V.

doi:10.1016/j.nmd.2018.12.002

Cited by 46 publications

(46 citation statements)

References 60 publications

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“…Additional studies examining the relationship of these seemingly less significant cardiac abnormalities in young patients and the long-term cardiac consequences would be beneficial. Restrictive lung disease has previously been described as the predominant respiratory abnormality in DM1, 26 and this is in line with our findings. Prior recommendations include baseline and serial monitoring of pulmonary function tests, annual or biennial ECG, and referral to a specialist for cardiac care.…”

Section: Discussionsupporting

confidence: 93%

Clinical and genetic characteristics of childhood‐onset myotonic dystrophy

et al. 2019

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Introduction Myotonic dystrophy type 1 (DM1) is caused by a CTG (cytosine‐thymine‐guanine) trinucleotide repeat expansion. Congenital DM (CDM) presents in the first month of life, whereas individuals with infantile and juvenile DM1 have later onset of symptoms. Methods We performed a retrospective chart review of patients with childhood‐onset DM1 seen at one of three locations in Dallas, Texas between 1990 and 2018. Symptoms, disease course, cognitive features, and family history were reviewed. Results Seventy‐four patients were included; CDM was diagnosed in 52 patients. There was maternal inheritance in 74% of patients. CTG repeat number ranged from 143 to 2300. Neuropsychiatric and cognitive deficits were common. Over half of the patients had GI disturbances, and orthopedic complications were common. Discussion Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.

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Section: Discussionsupporting

confidence: 93%

Clinical and genetic characteristics of childhood‐onset myotonic dystrophy

et al. 2019

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“…Respiratory involvement: Pulmonary complications are the leading cause of death in DM1 patients (26). Patients with DM1 tend to exhibit earlier respiratory insufficiency than patients with other neuromuscular diseases (27,28).…”

Section: Multisystem Involvementmentioning

confidence: 99%

“…Clinicians must monitor issues such as recurrent pneumonia at baseline and serially, with pulmonary function tests. Being a relatively slow progressive disorder, respiratory involvement frequently presents itself with symptoms such as fatigue, excessive daytime sleepiness, sleep disorders (obstructive or CNS mediated sleep apnea); thereafter, clinical manifestations progress to an ineffective cough, respiratory insufficiency (restrictive ventilatory pattern), and recurrent pulmonary infections (26,29). Many mechanisms are involved to explain respiratory insufficiency in DM1 besides respiratory muscle weakness and chest mechanics, and among those alterations are neural respiratory drive and abnormal central respiratory control (central hypoventilation) (30).…”

Section: Multisystem Involvementmentioning

confidence: 99%

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

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Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.

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“…Other myopathies at risk are some limb-girdle muscular dystrophies (especially sarcoglycanopathies) and myotonic dystrophy type 1 (DM1). The latter is a complex multi-systemic disease, in which cardiomyopathy and disturbances of central breathing regulation coexist, which make ventilatory management difficult [51]. The autosomal dominant facioscapulohumeral muscular dystrophy (FSHD), related to the 4q region, may develop ARDS generally in early-onset cases [52].…”

Section: Neuromuscular Disordersmentioning

confidence: 99%

Practical approach to respiratory emergencies in neurological diseases

et al. 2019

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Many neurological diseases may cause acute respiratory failure (ARF) due to involvement of bulbar respiratory center, spinal cord, motoneurons, peripheral nerves, neuromuscular junction, or skeletal muscles. In this context, respiratory emergencies are often a challenge at home, in a neurology ward, or even in an intensive care unit, influencing morbidity and mortality. More commonly, patients develop primarily ventilatory impairment causing hypercapnia. Moreover, inadequate bulbar and expiratory muscle function may cause retained secretions, frequently complicated by pneumonia, atelectasis, and, ultimately, hypoxemic ARF. On the basis of the clinical onset, two main categories of ARF can be identified: (i) acute exacerbation of chronic respiratory failure, which is common in slowly progressive neurological diseases, such as movement disorders and most neuromuscular diseases, and (ii) sudden-onset respiratory failure which may develop in rapidly progressive neurological disorders including stroke, convulsive status epilepticus, traumatic brain injury, spinal cord injury, phrenic neuropathy, myasthenia gravis, and Guillain-Barré syndrome. A tailored assistance may include manual and mechanical cough assistance, noninvasive ventilation, endotracheal intubation, invasive mechanical ventilation, or tracheotomy. This review provides practical recommendations for prevention, recognition, management, and treatment of respiratory emergencies in neurological diseases, mostly in teenagers and adults, according to type and severity of baseline disease.

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Respiratory dysfunction in myotonic dystrophy type 1: A systematic review

Cited by 46 publications

References 60 publications

Clinical and genetic characteristics of childhood‐onset myotonic dystrophy

Clinical and genetic characteristics of childhood‐onset myotonic dystrophy

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

Practical approach to respiratory emergencies in neurological diseases

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