Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Arthrogryposis
- Spinal Muscular Atrophy
- Early-Onset Hereditary Neuropathies
- Congenital Muscle Disorders
- Chapter 52 Congenital Myasthenic Syndromes
- Chapter 53 Congenital Muscular Dystrophies
- Chapter 54 Congenital Myopathies
- Chapter 55 Other Congenital Muscle Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 54 - Congenital Myopathies
from Congenital Muscle Disorders
Published online by Cambridge University Press: 07 August 2021
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Arthrogryposis
- Spinal Muscular Atrophy
- Early-Onset Hereditary Neuropathies
- Congenital Muscle Disorders
- Chapter 52 Congenital Myasthenic Syndromes
- Chapter 53 Congenital Muscular Dystrophies
- Chapter 54 Congenital Myopathies
- Chapter 55 Other Congenital Muscle Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Congenital myopathies are recognized by the clinical features of weakness and hypotonia, which may be obvious at birth or develop within the first weeks or months of life, thus sharing some characteristics with the congenital muscular dystrophies (discussed in Chapter 53). Classification has been based historically on skeletal muscle pathology, which in many cases remains useful in initial clinical workup, directing the choice of more conclusive genetic analyses. The main categories of congenital myopathies are nemaline myopathy, core myopathy, centronuclear myopathy (including X-linked myotubular myopathy), and congenital fiber-type disproportion myopathy (CFTD; see Table 54.1) [1,2]. A variety of additional phenotypes and genotypes are sometimes considered to be congenital myopathies (GeneTable)[3] but are omitted from the discussion here.
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- Perinatal Neuropathology , pp. 324 - 328Publisher: Cambridge University PressPrint publication year: 2021