Selected Heritable Disorders of Connective Tissue and Disability (Original Publisher)

Selected Heritable Disorders of Connective Tissue and Disability is a specialized, in-depth medical text focused on the intersection of inherited connective tissue diseases and the resulting physical and functional disabilities. First published in 2022, this authoritative volume offers clinicians, genetic counselors, physical medicine specialists, and advanced students a comprehensive overview of the diagnosis, management, and long-term impact of these complex syndromes.

This first edition highlights key hereditary conditions such as Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, and other lesser-known disorders, placing special emphasis on how these diseases influence physical function, mobility, and daily living. The book addresses the multidisciplinary nature of patient care, integrating perspectives from genetics, orthopedics, rehabilitation, and disability medicine.

Key Features and Highlights:

• Multidisciplinary Approach: Explores genetic, clinical, orthopedic, and rehabilitative aspects of connective tissue disorders.
• Patient-Centered Focus: Discusses functional disability, quality of life, and long-term patient care.
• Evidence-Based Content: Reflects current diagnostic criteria, treatment recommendations, and case-based learning.
• Clinical Utility: Designed for practical use by clinicians in both outpatient and hospital settings.
• Educational Value: Ideal for geneticists, rheumatologists, physiatrists, pediatricians, and medical educators.

Major Topics Covered:

• Includes core chapters on the diagnosis and management of Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, osteogenesis imperfecta, and other heritable connective tissue disorders.
• Covers disability implications, including joint hypermobility, musculoskeletal fragility, and neuromuscular impact.
• Addresses therapeutic interventions, physical rehabilitation strategies, assistive technologies, and interdisciplinary care planning.

About the Author:
Written by a leading expert in medical genetics and physical medicine, the author brings decades of clinical experience in the diagnosis and management of connective tissue disorders, with a focus on improving patient function and quality of life.

eBook Specifications:

• Format: PDF
• File Size: Approx. 75 MB
• Language: English
• Device Compatibility: Fully compatible with iOS, Android, Kindle, PC, Mac, and all major e-readers.

Frequently Asked Questions (FAQs)

Q1: Is this book useful for rehabilitation specialists or only for geneticists?
A1: Absolutely. The book is specifically designed to support multidisciplinary care, making it highly relevant for rehabilitation professionals, physical therapists, and disability medicine specialists.

Q2: Does the book provide management strategies for functional limitations caused by these disorders?
A2: Yes. The text includes detailed approaches to managing physical disability, improving mobility, and enhancing patient independence through therapy and assistive interventions.