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.

Inherited Metabolic Disease in Adults

2016 ◽  
Keyword(s):  
Metabolic Disease ◽  
Clinical Management ◽  
Metabolic Diseases ◽  
Adult Patients ◽  
Inherited Metabolic Diseases ◽  
Inherited Metabolic Disease ◽  
Concise Overview ◽  
Specialized Care ◽  
First Time ◽  
Pediatric Onset

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a topic that will become a growing imperative for physicians across primary and specialized care.

scholarly journals Emerging strategies for cell and gene therapy of the muscular dystrophies

2009 ◽  
Vol 11 ◽  
Author(s):  
Lindsey A. Muir ◽  
Jeffrey S. Chamberlain
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Trinucleotide Repeat ◽  
Chromosome 1 ◽  
Muscular Dystrophies ◽  
Dystrophic Muscle ◽  
Kinase Gene ◽  
Wide Range

The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region of human chromosome 1. Currently the only treatments involve clinical management of symptoms, although several promising experimental strategies are emerging. These include gene therapy using adeno-associated viral, lentiviral and adenoviral vectors and nonviral vectors, such as plasmid DNA. Exon-skipping and cell-based therapies have also shown promise in the effective treatment and regeneration of dystrophic muscle. The availability of numerous animal models for Duchenne muscular dystrophy has enabled extensive testing of a wide range of therapeutic approaches for this type of disorder. Consequently, we focus here on the therapeutic developments for Duchenne muscular dystrophy as a model of the types of approaches being considered for various types of dystrophy. We discuss the advantages and limitations of each therapeutic strategy, as well as prospects and recent successes in the context of future clinical applications.

scholarly journals An Overview of Cardiac Management in Neuromuscular Disease

2016 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Renee M. Hickey ◽  
John D. Cullen ◽  
George M. Sachs
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Function ◽  
Myasthenia Gravis ◽  
Neuromuscular Disease ◽  
Neuromuscular Disorders ◽  
Cardiovascular Complications ◽  
Muscular Dystrophies ◽  
Cardiac Pathology ◽  
Life Threatening

Muscular dystrophy and myasthenia gravis are two neuromuscular disorders that can involve significant cardiovascular complications. The frequency and severity of cardiac pathology varies widely among the muscular dystrophies. In some, it is nearly inevitable and requires regular evaluation. In others, assessment of cardiac function can be more symptom-driven. On-ly a minority of myasthenic patients manifest disease-related cardiovascular complications; however, their presentation can be rapidly progressive and life-threatening..

scholarly journals Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

2014 ◽  
Vol 72 (9) ◽  
pp. 721-734 ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Júlia Filardi Paim ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Neuromuscular Disorders ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscular Dystrophies ◽  
Muscle Involvement ◽  
Respiratory Management ◽  
Diagnostic Flowchart ◽  
And Function

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

scholarly journals Facioscapulohumeral Dystrophy

2008 ◽  
Vol 88 (1) ◽  
pp. 105-113 ◽  
Author(s):  
Shree Pandya ◽  
Wendy M King ◽  
Rabi Tawil
Keyword(s):  
Muscular Dystrophy ◽  
Natural History ◽  
Myotonic Dystrophy ◽  
Clinical Features ◽  
Genetic Defect ◽  
Duchenne Dystrophy ◽  
Current Management ◽  
Facioscapulohumeral Dystrophy ◽  
The Third

Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. Over the last decade, major advances have occurred in the understanding of the genetics of this disorder. Despite these advances, the exact mechanisms that lead to atrophy and weakness secondary to the genetic defect are still not understood. The purposes of this article are to increase awareness of FSHD among clinicians; to provide an update regarding the genetics, clinical features, natural history, and current management of FSHD; and to discuss opportunities for research.

scholarly journals Muscular Dystrophies

2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Sathasivam S
Keyword(s):  
Clinical Features ◽  
Neuromuscular Disorders ◽  
Management Strategies ◽  
Muscular Dystrophies ◽  
Made In

Huge strides have been made in the last two decades in our understanding of muscular dystrophies. This has led to better classification of this group of heterogeneous neuromuscular disorders based on clinical features, investigation results, and molecular and genetic pathophysiology. This review aims to discuss the major forms of muscular dystrophies, the useful investigations to diagnose them and the management strategies available at present.

scholarly journals Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

2022 ◽  
Author(s):  
Nigama Chandra Sattenapalli ◽  
Anka Rao Areti ◽  
S.N. Koteswara Rao G. ◽  
Uma Sankar Kulandaivelu ◽  
Rajasekhar Reddy Alavala ◽  
...  
Keyword(s):  
Family History ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Preliminary Analysis ◽  
Genetic Diagnosis ◽  
Southern India ◽  
Age Group ◽  
Chief Complaints ◽  
Duchene Muscular Dystrophy ◽  
Study Population

Abstract Background Duchene muscular dystrophy (DMD) is an X-linked progressive muscle disorder that is characterized by proximal muscle weakness followed by a premature death in young boys. There is a low index of reports on diagnosis ratio and clinical features in Southern India. Objective The present study aimed to conduct an observational survey on preliminary analysis, family history, associated complaints, and diagnosis ratio of DMD in southern regions of India. Materials and Methods A systematic observation and survey were conducted on clinically confirmed DMD patients registered between 2019 and 2021 through the questionnaire. The questionnaire and pattern of study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians. Preliminary analysis such as onset criteria, motor difficulties, milestone delay; family history and consanguinity analysis; chief complaints (ambulatory status, lordosis, respiratory, and cardiac outcomes), associated complaints such as enlarged tongue, oral hygiene, behavioral problems; and other similar parameters were studied. An assessment of the diagnosis rate and pattern was performed. Statistical analysis The data were reviewed and interpreted through statistical methods mean ± standard deviation represented as a percentage. Results In total, 400 DMD patients were included and 250 participated in the study. The onset age group was 2 to 5 years in 37% of the population. Milestone delay was seen in 86%; consanguinity marriage of parents was reported in 39%. Frequent falls were reported in 62% in 5 to 8 years old group. Wheelchair status was reported in 65% in 9 to 12 years old. Cervical and lumbar lordoses were seen in 57 and 69%, respectively, in above 13 years old. Respiratory and cardiac complications were 88 and 78% reported in above 13 years old, respectively. Other major associated complaints such as enlarged tongue were reported in 79%. Fifty-one percent underwent genetic diagnosis and 79% of the population underwent serum creatine phosphokinase (CPK) analysis for the confirmation of DMD. Conclusion In this study population of South India, milestone delay was a major observation. Although there was a slight margin, family history shows “no blood relation among parents” in the majority of the study population. Chief complaints were predominantly severe above 13-year age group population. Serum CPK was the first choice for the first investigation, which is followed by a genetic diagnosis.

Dysregulation of calcium homeostasis in muscular dystrophies

2014 ◽  
Vol 16 ◽  
Author(s):  
Ainara Vallejo-Illarramendi ◽  
Ivan Toral-Ojeda ◽  
Garazi Aldanondo ◽  
Adolfo López de Munain
Keyword(s):  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Calcium Ion ◽  
Premature Death ◽  
Muscle Disease ◽  
Regulatory Proteins ◽  
Muscular Dystrophies ◽  
Patient Mobility ◽  
Calcium Dysregulation ◽  
Complete Paralysis

Muscular dystrophies are a group of diseases characterised by the primary wasting of skeletal muscle, which compromises patient mobility and in the most severe cases originate a complete paralysis and premature death. Existing evidence implicates calcium dysregulation as an underlying crucial event in the pathophysiology of several muscular dystrophies, such as dystrophinopathies, calpainopathies or myotonic dystrophy among others. Duchenne muscular dystrophy is the most frequent myopathy in childhood, and calpainopathy or LGMD2A is the most common form of limb-girdle muscular dystrophy, whereas myotonic dystrophy is the most frequent inherited muscle disease worldwide. In this review, we summarise recent advances in our understanding of calcium ion cycling through the sarcolemma, the sarcoplasmic reticulum and mitochondria, and its involvement in the pathogenesis of these dystrophies. We also discuss some of the clinical implications of recent findings regarding Ca2+handling as well as novel approaches to treat muscular dystrophies targeting Ca2+regulatory proteins.

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