G.P.12.12 Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies

2007 ◽  
Vol 17 (9-10) ◽  
pp. 842-843
Author(s):  
L. Feng ◽  
C. Jimenez-Mallebrera ◽  
R. Quinlivan ◽  
F. Muntoni ◽  
C. Sewry
Keyword(s):  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Congenital Myopathies ◽  
Over Expression

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.

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

LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 382-384
Author(s):  
S. C.
Keyword(s):  
Peripheral Nerves ◽  
Neuromuscular Disorders ◽  
Serum Enzymes ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Muscular Weakness ◽  
Conduction Velocities ◽  
Clinical Awareness ◽  
Muscle Biopsies

The current literature reflects the interest of pediatricians, neurologists, and internists in the neuromuscular disorders of childhood.1-5 Clinical awareness and the availability and refinement of ancillary procedures, such as electromyography, measurement of nerve conduction velocities, determination of serum enzymes and muscle biopsies, have made it possible to differentiate many of these conditions and correctly localize the pathology of these lower motor neuron disorders to the anterior horn cells, the peripheral nerves, and/or the muscles.1 Primary muscle disease is the most frequent cause of progressive muscular weakness in children with neuromuscular disorders.2 The primary myopathies are either hereditary or acquired. The muscular dystrophies and the myotonic syndrome are representative of the genetic variety, while the acquired disorders are recognized clinically as polymyositis and dermatomyositis.

scholarly journals Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 539
Author(s):  
Lidia Gonzalez-Quereda ◽  
Maria Jose Rodriguez ◽  
Jordi Diaz-Manera ◽  
Jorge Alonso-Perez ◽  
Eduard Gallardo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Neuromuscular Disorders ◽  
Neuromuscular Disorder ◽  
Gene Panel ◽  
Muscular Dystrophies ◽  
Next Generation ◽  
Congenital Myasthenic Syndromes ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing ◽  
Myasthenic Syndromes

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. We evaluated the diagnostic value of a custom targeted next-generation sequencing gene panel to study the mutational spectrum of a subset of NMD patients in Spain. In an NMD cohort of 207 patients with congenital myopathies, distal myopathies, congenital and adult-onset muscular dystrophies, and congenital myasthenic syndromes, we detected causative mutations in 102 patients (49.3%), involving 42 NMD-related genes. The most common causative genes, TTN and RYR1, accounted for almost 30% of cases. Thirty-two of the 207 patients (15.4%) carried variants of uncertain significance or had an unidentified second mutation to explain the genetic cause of the disease. In the remaining 73 patients (35.3%), no candidate variant was identified. In combination with patients’ clinical and myopathological data, the custom gene panel designed in our lab proved to be a powerful tool to diagnose patients with myopathies, muscular dystrophies and congenital myasthenic syndromes. Targeted NGS approaches enable a rapid and cost-effective analysis of NMD- related genes, offering reliable results in a short time and relegating invasive techniques to a second tier.

Congenital muscular dystrophies and unstructured congenital myopathies

1980 ◽  
Vol 2 (2) ◽  
pp. 120-125 ◽  
Author(s):  
Hans-Gerd Lenard ◽  
Hans-Hilmar Goebel
Keyword(s):  
Muscular Dystrophies ◽  
Congenital Myopathies

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..

Dyspnea

2015 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Skeletal Muscle ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Acid Maltase Deficiency ◽  
Acid Maltase ◽  
Common Causes ◽  
Inflammatory Demyelinating Polyneuropathy ◽  
Inflammatory Neuropathies ◽  
Phrenic Nerves

The most common causes of dyspnea are not neuromuscular but rather are cardiac and pulmonary. However, dyspnea is an important and serious manifestation of many neuromuscular disorders, and it may compound an underlying pulmonary or cardiac problem. The diaphragm is a skeletal muscle under the control ofperipheral nerves(phrenic nerves) and may be targeted by inflammatory neuropathies such as Guillain-Barrésyndrome(GBS), chronic inflammatory demyelinating polyneuropathy(CIDP), and brachial plexitis, myopathies such as acid maltase deficiency and muscular dystrophies, and neuromuscular disorders such as myasthenia gravis. Periodic measurement of pulmonary function isrecommended in neuromuscular clinics.

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.

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