scholarly journals 117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands

2004 ◽  
Vol 14 (1) ◽  
pp. 56-69 ◽  
Author(s):  
Carina Wallgren-Pettersson ◽  
Kate Bushby ◽  
Uwe Mellies ◽  
Anita Simonds
Keyword(s):  
The Netherlands ◽  
Myotonic Dystrophy ◽  
Neuromuscular Disorders ◽  
Ventilatory Support ◽  
Muscular Dystrophies ◽  
Congenital Myopathies ◽  
Congenital Myotonic Dystrophy

Metabolic disease and neuromuscular disorders

2020 ◽  
pp. 287-324
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Metabolic Disease ◽  
Family History ◽  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Clinical Features ◽  
Metabolic Diseases ◽  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Inherited Metabolic Diseases ◽  
Cardiac Symptoms

This chapter covers metabolic diseases and neuromuscular disorders. A number of inherited neuromuscular disorders may manifest with cardiac symptoms or signs. This chapter covers the most common muscular dystrophies with prominent cardiac involvement (including Duchenne, Becker, myotonic dystrophy, Emery–Dreifuss muscular dystrophy (EDMD) 1 and EDMD2, and limb girdle muscular dystrophy 2I along with clinical presentation, family history, and investigations. The chapter then goes on to general issues in inherited metabolic diseases, and their associated cardiac features. Clinical features, diagnosis, and treatment are described for each example.

scholarly journals From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies

2020 ◽  
Vol 21 (23) ◽  
pp. 8935
Author(s):  
Mónika Sztretye ◽  
László Szabó ◽  
Nóra Dobrosi ◽  
János Fodor ◽  
Péter Szentesi ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Transgenic Mouse ◽  
Mouse Models ◽  
Age Of Onset ◽  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Genetic Defects ◽  
Transgenic Mouse Models ◽  
Congenital Myopathies ◽  
Time Point

Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characterized by a progressive deterioration of muscle mass and strength. The causes, symptoms, age of onset, severity, and progression vary depending on the exact time point of diagnosis and the entity. Congenital myopathies are rare muscle diseases mostly present at birth that result from genetic defects. There are no known cures for congenital myopathies; however, recent advances in gene therapy are promising tools in providing treatment. This review gives an overview of the mouse models used to investigate the most common muscular dystrophies and congenital myopathies with emphasis on their potentials and limitations in respect to human applications.

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy

scholarly journals Effects of nasal high flow on nocturnal hypercapnia, sleep, and sympathovagal balance in patients with neuromuscular disorders

2020 ◽  
Author(s):  
Anna Christina Meyer ◽  
Jens Spiesshoefer ◽  
Nina Christina Siebers ◽  
Anna Heidbreder ◽  
Christian Thiedemann ◽  
...  
Keyword(s):  
Neuromuscular Disorders ◽  
Ventilatory Support ◽  
Peripheral Resistance ◽  
Resistance Index ◽  
High Flow ◽  
Apnea Hypopnea Index ◽  
Sympathovagal Balance ◽  
Peripheral Oxygen Saturation ◽  
Depth Analysis ◽  
Nasal High Flow Therapy

Abstract Purpose In neuromuscular disorders (NMD), inspiratory muscle weakness may cause sleep-related hypoventilation requiring non-invasive ventilation (NIV). Alternatively, nasal high flow therapy (NHF) may ameliorate mild nocturnal hypercapnia (NH) through washout of anatomical dead space and generation of positive airway pressure. Ventilatory support by NIV or NHF might have favourable short-term effects on sympathovagal balance (SVB). This study comparatively investigated the effects of NHF and NIV on sleep-related breathing and SVB in NMD patients with evolving NH. Methods Transcutaneous CO2 (ptcCO2), peripheral oxygen saturation (SpO2), sleep outcomes and SVB (spectral analysis of heart rate, diastolic blood pressure variability) along with haemodynamic measures (cardiac index, total peripheral resistance index) were evaluated overnight in 17 patients. Polysomnographies (PSG) were randomly split into equal parts with no treatment, NIV and NHF at different flow rates (20 l/min vs. 50 l/min). In-depth analysis of SVB and haemodynamics was performed on 10-min segments of stable N2 sleep taken from each intervention. Results Compared with no treatment, NHF20 and NHF50 did not significantly change ptcCO2, SpO2 or the apnea hypopnea index (AHI). NHF50 was poorly tolerated. In contrast, NIV significantly improved both gas exchange and AHI without adversely affecting sleep. During daytime, NHF20 and NHF50 had neutral effects on ventilation and oxygenation whereas NIV improved ptcCO2 and SpO2. Effects of NIV and NHF on SVB and haemodynamics were neutral during both night and daytime. Conclusions NHF does not correct sleep-disordered breathing in NMD patients with NH. Both NHF and NIV exert no immediate effects on SVB.

What's new in neuromuscular disorders? The congenital myopathies

2003 ◽  
Vol 7 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Heinz Jungbluth ◽  
Caroline A Sewry ◽  
Francesco Muntoni
Keyword(s):  
Neuromuscular Disorders ◽  
Congenital Myopathies

scholarly journals Effects of 1-month withdrawal of ventilatory support in hypercapnic myotonic dystrophy type 1

Respirology ◽  
2017 ◽  
Vol 22 (7) ◽  
pp. 1416-1422 ◽  
Author(s):  
Fergal J. O'Donoghue ◽  
Jean-Christian Borel ◽  
Yves Dauvilliers ◽  
Patrick Levy ◽  
Renaud Tamisier ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Ventilatory Support ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

CONGENTITAL MYOTONIC DYSTROPHY

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 361-361
Author(s):  
J. F. L.
Keyword(s):  
Myotonic Dystrophy ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Artificial Ventilation ◽  
Birth Asphyxia ◽  
Respiratory Complications ◽  
Respiratory Problems ◽  
Intrauterine Growth ◽  
Congenital Myotonic Dystrophy ◽  
Duration Of Ventilation

The clinical features of 14 neonates with congenital myotonic dystrophy were retrospectively reviewed. These babies represent all the new cases of congenital myotonic dystrophy seen in the department since 1982. Twelve babies were referred because of either difficulties in diagnosis or difficulties in the management of their respiratory problems. Of the 14 babies, 13 had birth asphyxia, 11 were premature, and four had intrauterine growth retardation. Ten babies required artificial ventilation from birth. Abnormalities on chest radiography included thin ribs (n = 9) and raised right hemidiaphragms (n = 5). Recurrent episodes of collapse and consolidation of the lungs secondary to poor swallowing occurred in all ventilated babies. All babies ventilated for longer than four weeks died of respiratory complications before the age of 15 months. One baby was successfully extubated after diaphragmatic plication, but he died a few months later. Duration of ventilation was the best guide to prognosis.

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