The book "Myotonic Dystrophy" by Dr. P. S. Harper is a comprehensive review of this rare and complex condition. It is part of a series called "Major Problems in Neurology" and provides an in-depth look at the clinical, genetic, and diagnostic aspects of myotonic dystrophy. Dr. Harper, with extensive clinical experience, presents a thorough analysis of the disease, including its varied manifestations such as muscle weakness, eye problems, hormonal issues, and cardiac abnormalities. The book includes detailed photographs and a discussion of the disease's progression over 40 years. Dr. Harper also addresses practical issues in diagnosis and management, including anaesthetic risks and symptomatic relief. The chapter on neonatal and congenital forms of myotonic dystrophy is particularly detailed, with Dr. Harper's unique insights into the genetic factors involved. However, some critics question his use of the term "congenital myotonic dystrophy" and the inclusion of certain cases. The book also discusses the genetic basis of the disease, including the challenges in identifying heterozygous carriers. Dr. Harper's work is praised for its clarity and thoroughness, and it is recommended for neurologists and pediatricians. The book is highly regarded and is considered an important contribution to the field of neurology. The second book, "Advances in Human Genetics," is a significant annual publication in human genetics, featuring reviews on various topics including α-fetoprotein, chromosomes, and folate metabolism. The third book, "Inherited Disorders of Carbohydrate Metabolism," is a compilation of proceedings from an international conference on inborn errors of metabolism, covering topics such as galactosaemia and fructosaemia. The book is well-structured and provides a comprehensive overview of these disorders.The book "Myotonic Dystrophy" by Dr. P. S. Harper is a comprehensive review of this rare and complex condition. It is part of a series called "Major Problems in Neurology" and provides an in-depth look at the clinical, genetic, and diagnostic aspects of myotonic dystrophy. Dr. Harper, with extensive clinical experience, presents a thorough analysis of the disease, including its varied manifestations such as muscle weakness, eye problems, hormonal issues, and cardiac abnormalities. The book includes detailed photographs and a discussion of the disease's progression over 40 years. Dr. Harper also addresses practical issues in diagnosis and management, including anaesthetic risks and symptomatic relief. The chapter on neonatal and congenital forms of myotonic dystrophy is particularly detailed, with Dr. Harper's unique insights into the genetic factors involved. However, some critics question his use of the term "congenital myotonic dystrophy" and the inclusion of certain cases. The book also discusses the genetic basis of the disease, including the challenges in identifying heterozygous carriers. Dr. Harper's work is praised for its clarity and thoroughness, and it is recommended for neurologists and pediatricians. The book is highly regarded and is considered an important contribution to the field of neurology. The second book, "Advances in Human Genetics," is a significant annual publication in human genetics, featuring reviews on various topics including α-fetoprotein, chromosomes, and folate metabolism. The third book, "Inherited Disorders of Carbohydrate Metabolism," is a compilation of proceedings from an international conference on inborn errors of metabolism, covering topics such as galactosaemia and fructosaemia. The book is well-structured and provides a comprehensive overview of these disorders.