Congenital myopathies - ScienceDirect

Seminars in Pediatric Neurology

Volume 3, Issue 2, June 1996, Pages 152-161

Seminars in Pediatric Neurology

https://doi.org/10.1016/S1071-9091(96)80043-X Get rights and content

The congenital myopathies (CM) are a group of non or little progressive neuromuscular conditions, often hereditary, delineaated by morphological techniques, ie, enzyme histochemistry and electron microscopy. The catalogue of CM entailing well known “classic” conditions as central core disease, nemaline myopathy, and centronuclear myopathy has continuously been expanded, now comprising some 40 conditions. Nosologic advances have occurred with immunohistochemical techniques that show generalized or focal protein abnormalities within muscle fibers of certain CM, but at much slower pace as to localization of CM genes. So far, only those for central core disease, nemaline myopathy, and myotubular myopathy have been reported. Epidemiological rarity and nosographic controversy of CM have contributed to this lack of molecular genetic progress in CM.

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Cited by (21)

Pediatric Neuromuscular Diseases
2023, Pediatric Neurology
The diagnostic and referral workflow for children with neuromuscular disorders is evolving, particularly as newborn screening programs are expanding in tandem with novel therapeutic developments. However, for the children who present with symptoms and signs of potential neuromuscular disorders, anatomic localization, guided initially by careful history and physical examination, continues to be the cardinal initial step in the diagnostic evaluation. It is important to consider whether the localization is more likely to be in the lower motor neuron, peripheral nerve, neuromuscular junction, or muscle. After that, disease etiologies can be divided broadly into inherited versus acquired categories. Considerations of localization and etiologies will help generate a differential diagnosis, which in turn will guide diagnostic testing. Once a diagnosis is made, it is important to be aware of current treatment options, as a number of new therapies for some of these disorders have been approved in recent years. Families are also increasingly interested in clinical research, which may include natural history studies and interventional clinical trials. Such research has proliferated for rare neuromuscular diseases, leading to exciting advances in diagnostic and therapeutic technologies, promising dramatic changes in the landscape of these disorders in the years to come.
Congenital myopathies/dystrophies
2003, Neurologic Clinics
Protein surplus myopathies and other rare congenital myopathies
2002, Seminars in Pediatric Neurology
The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins, Currently, nosologic, including molecular criteria include desmin-related myopathies, actinopathies, and hereditary inclusion body myopathies, whereas hyaline body myopathy is still a putative form of protein surplus myopathy because of lack of any molecular data. The congenital myopathies (CM), foremost including nemaline and myotubular myopathies, have given evidence that, despite their epidemiologic rarity, the molecular age has dawned in CM and has even revealed surprising new nosologic features requiring reassessment and reclassification of certain CM. It is to be expected that a recently updated ENMC consortium on “Protein surplus and other congenital myopathies” may procure important new information.
Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations
2022, Indian Journal of Pathology and Microbiology
Muscle histopathology in nebulin-related nemaline myopathy: Ultrastrastructural findings correlated to disease severity and genotype
2014, Acta Neuropathologica Communications
Congenital myopathies
2013, Neuromuscular Disorders in Clinical Practice

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