Isabelle Desguerre's Books

Pediatric Neurology Part III

Chapter 141. Progressive muscular dystrophies

By: Jamel Chelly,Isabelle Desguerre

Write a review Read reviews Take a Quiz Solve Book Puzzle

Pediatric Neurology Part III

Chapter 141. Progressive muscular dystrophies

By: Jamel Chelly,Isabelle Desguerre

Infancy- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, cardiac and respiratory functions, while those of late onset may be mild and associated with slight weakness or fatigability induced by effort. In addition to the distribution of muscle weakness, symptoms, and course of the disease, the diagnosis of muscular dystrophy is usually ascertained by histological findings. There is connective tissue proliferation in the perimysium and endomysium, variation in muscle fiber size, cytoarchitectural alterations of myofibers such as internal nuclei, myofibrillar whorls, and fiber splitting and lobulation, but, most of all, degeneration and regeneration of myofibers. Causes of muscular dystrophies characterized by muscle weakness and wasting are heterogeneous and include dysfunction of diverse genetic pathways and genes encoding proteins of the plasma membrane, extracellular matrix, sarcomere, and nuclear membrane components. Duchenne and Becker muscular dystrophies are prototypes illustrating advances in the field of myology. Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous, some with autosomal dominant (LGMD1) and others with autosomal recessive (LGMD2) inheritance. Neither clinical and genetic grounds nor biopsy patterns are specific enough to distinguish them, but two common denominators are: (1) weakness and wasting predominating in pelvic and shoulder girdle muscles, with occasional involvement of the myocardium; and (2) necrosis and regeneration of myofibers. While identification of genetic causes and molecular diagnosis are increasingly improved, especially with the advent of new generation sequencing technologies, optimized care, information for the family, and prevention, including genetic counseling and prenatal diagnosis, require multidisciplinary follow-up with genetic, pediatric, and psychological involvement.

Average ratings

N/A

Write a review

Solve jigsaw puzzle

Age

Page Count

Publisher

Elsevier Inc. Chapters

Published Date

ISBN 10

0128084073

ISBN 13

9780128084076

Pediatric Neurology Part III

Chapter 136. Diagnostic workup for neuromuscular diseases

By: Michel Fardeau,Isabelle Desguerre

Write a review Read reviews Take a Quiz Solve Book Puzzle

Pediatric Neurology Part III

Chapter 136. Diagnostic workup for neuromuscular diseases

By: Michel Fardeau,Isabelle Desguerre

Clinical symptoms of neuromuscular diseases vary according to age and type of primary involvement (spinal motor neuron, nerve, neuromuscular junction or muscle). Tools at our disposal for diagnostic purposes are graduated based on the age of the patient and diagnostic suspicions generated by the clinical workup. Seven clinical presentations can be identified that all require technical facilities specifically dedicated to pediatric neuromuscular diseases: congenital hypomobility and arthrogryposis, paralytic hypotonia in infancy, motor delay and chronic walking difficulties after the age of 18 months, progressive walking difficulties after the age of 3 years, effort intolerance and acute rhabdomyolysis, acute motor symptoms or fatigability, and variability of symptoms. Electrophysiological investigation, particularly electromyography, is a valuable tool where neurogenic involvement or neuromuscular block is suspected. However, the technique is difficult to perform in children. Muscle biopsy is generally the key investigation and can be performed at any age. Molecular biology helps to improve diagnostic strategy. Muscle MRI, in combination with clinical evaluation, assists the selection of appropriate genetic tests and more generally the identification of genetically distinct forms of neuromuscular disorder. None of these are by any means routine investigations, and only a specialized multidisciplinary clinical approach can permit correct diagnosis and proper follow-up.

Average ratings

N/A

Write a review

Solve jigsaw puzzle

Age

Page Count

Publisher

Elsevier Inc. Chapters

Published Date

ISBN 10

0128084022

ISBN 13

9780128084021

Pediatric Neurology Part I

Chapter 6. Clinical and imaging diagnosis for heredodegenerative diseases

By: Nathalie Boddaert,Francis Brunelle,Isabelle Desguerre

Write a review Read reviews Take a Quiz Solve Book Puzzle

Pediatric Neurology Part I

Chapter 6. Clinical and imaging diagnosis for heredodegenerative diseases

By: Nathalie Boddaert,Francis Brunelle,Isabelle Desguerre

Clinical features (progressive psychomotor retardation, seizures, movement disorders and motor signs in both central and peripheral systems, sensorineural defects, and psychiatric symptoms) and brain imaging are the keys to diagnosis. CT is indicated for the detection of calcifications and blood, and for angiography. MRI in all three axes requires T1, T2, FLAIR (from 1 year on), eventually T2* or contrast administration, and diffusion in any acute condition. MR spectroscopy allows the dectection of lactate and creatine deficiency, elevated choline in high membrane turnover, and low NAA in neuronal death. The normal sequence of myelination needs to be taken into account. Pre- and neonatal anomalies include cystic and basal ganglia lesions, gyral and myelin anomalies, callosal agenesis, and large subdural spaces. Anomalies disclosed after 3 months of age include basal ganglia appearing hyper- or hypointense on T2, hypointense on T2*, or calcified white matter anomalies mainly periventricular or subcortical, or with contrast enhancement, associated with macrocephaly and/or large or very small cysts, and hypomyelination; there may be “vascular” or pseudostroke disorders, cortical atrophy, hypoplasia, or abnormal signal of the brainstem and/or cerebellum. Spectroscopy should investigate basal ganglia, white matter, and the cerebellum. MRI may reveal typical alterations of the brain at the preclinical stage in siblings of affected children.

Average ratings

N/A

Write a review

Solve jigsaw puzzle

Age

Page Count

Publisher

Elsevier Inc. Chapters

Published Date

ISBN 10

0128077115

ISBN 13

9780128077115

Book's by Isabelle Desguerre

Pediatric Neurology Part III

Pediatric Neurology Part III

Pediatric Neurology Part III

Pediatric Neurology Part III

Pediatric Neurology Part I

Pediatric Neurology Part I

Username

Password

Username

Password

Password again

Birthday

Email