Muscle, Bone, and Skin Disorders
Victor A. Bernstam in Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
The tissue-specific expression of the dystrophin gene in muscle tissue and brain is explained by the fact that the brain promoter is active only in neurons, whereas the muscle promoter operates in skeletal, cardiac, and smooth muscle as well as in glial and neuronal cells. Moreover, selective reduction in dystrophin expression in the brain or muscle may be due to a deletion of either brain-specific or muscle-specific promoter. Osteosarcoma is the most common malignant tumor of bone, excluding plasma cell myelomas. The diversity of skin pathologies and lack of concentrated effort lead only to fragmentary observations on the biology of keratinocytes affected by some skin disorders. The triumphant discoveries of the gene and its product, dystrophin, responsible for Duchenne muscular dystrophy, and a related milder, allelic form, Becker muscular dystrophy, allowed the development of molecular tools for unequivocal differentiation of these muscular disorders from a number of clinically similar diseases.
Complementary methodologies in the evaluation of newborn screening for Duchenne muscular dystrophy
Angus Clarke in The Genetic Testing of Children, 2020
This chapter describes how the research was designed, and demonstrates the value of adopting complementary methodologies. It discusses the research designed to evaluate the response of families with a confirmed positive result, details of the other studies will be published elsewhere. In a research setting where it is possible to adopt complementary methodologies, such as the newborn screening programme for Duchenne muscular dystrophy, the great advantage is that one gets the best of both worlds. The structure of the psychosocial evaluation was reflexively developed during its early years, with several quantitative measures being introduced as a result of feedback from the qualitative elements. There were strong arguments for adopting a purely qualitative design. A new, qualitative method of collecting secondary data which is called the 'Technique of Professional Accounting'. This technique involves including accounts of events in the case studies from health professionals who are working with the family.
Genetic Basis of Neuromuscular Disorders
Maher Kurdi in Neuromuscular Pathology Made Easy, 2021
This chapter discusses the genetic basis of neuromuscular disorders (NMDs) and examine the different types of genetic tests currently available for use by clinicians. The majority of NMDs have an underlying genetic basis and are inherited in a Mendelian fashion as either autosomal recessive, autosomal dominant, or x-linked. In this chapter we will review the genetic basis of NMDs and discuss the different types of genetic tests currently available for use by clinicians. The nature and type of the mutation in the Duchenne muscular dystrophy (DMD) gene are associated with the severity and subtype of DMD causing either Becker muscular dystrophy (BMD) or the more severe DMD. Genetic testing for NMDs may involve a single-gene targeted approach, multiple-gene approach, or the more inclusive whole-exome or whole-genome sequencing. The WES technique is a very useful prelude to WGS as it provides a significant opportunity to identify the pathogenic variant with reduced cost, faster turn-around time, and easier interpretation compared to WGS.
The experiences of patients with Duchenne muscular dystrophy in facing and learning about their clinical conditions
Published in International Journal of Qualitative Studies on Health and Well-being, 2016
Haruo Fujino, Yuko Iwata, Toshio Saito, Tsuyoshi Matsumura, Harutoshi Fujimura, Osamu Imura
Patients experience extreme difficulty when facing an intractable genetic disease. Herein, we examine the experiences of patients with Duchenne muscular dystrophy in facing and learning about their disease. A total of seven patients with Duchenne muscular dystrophy (age range: 20–48) participated. We conducted in-depth interviews with them about how they learned of their disease and how their feelings regarding the disease changed over time. Transcribed data were analysed using thematic analysis. The following themes emerged from this analysis: “experiences before receiving the diagnosis,” “experiences when they learned of their condition and progression of the disease,” “supports,” and “desired explanations.” Anxiety and worry were most pronounced when they had to transition to using wheelchairs or respirators due to disease progression; indeed, such transitions affect the patients psychological adjustment. In such times, support from significant others in their lives helped patients adjust.
Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy
Published in Rare Diseases, 2016
Nicholas P. Whitehead, Min Jeong Kim, Kenneth L. Bible, Marvin E. Adams, Stanley C. Froehner
Duchenne muscular dystrophy (DMD) is the most common and severe inherited neuromuscular disorder. DMD is caused by mutations in the gene encoding the dystrophin protein in muscle fibers. Dystrophin was originally proposed to be a structural protein that protected the sarcolemma from stresses produced during contractions. However, more recently, experimental evidence has revealed a far more complicated picture, with the loss of dystrophin causing dysfunction of multiple muscle signaling pathways, which all contribute to the overall disease pathophysiology. Current gene-based approaches for DMD are conceptually appealing since they offer the potential to restore dystrophin to muscles, albeit a partially functional, truncated form of the protein. However, given the cost and technical challenges facing these genetic approaches, it is important to consider if relatively inexpensive, clinically used drugs may be repurposed for treating DMD. Here, we discuss our recent findings showing the potential of simvastatin as a novel therapy for DMD.
Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report
Published in Physical & Occupational Therapy In Pediatrics, 2018
Kate Carroll, Katy de Valle, Andrew Kornberg, Monique Ryan, Rachel Kennedy
Aim: To report the effects of below-knee serial casting in two boys with Duchenne muscular dystrophy who presented with well-preserved strength and calf shortening. Methods: Bilateral below-knee serial casts were applied over two weeks with follow-up of daily stretching and wearing of customized night splints. Outcome measures were performed at baseline, 1, 3, 6, and 12 months post-casting. These included measures of calf length, leg strength, motor function, endurance, and spatio-temporal gait parameters. Results: Both boys completed serial casting with gains in muscle length. No adverse effects on strength or motor function were observed over a 12-month follow-up period.
Related Knowledge Centers
- Age of Onset
- Dystrophin
- Muscle Weakness
- Muscular Dystrophies
- Chromosome
- Inheritance Patterns
- Age of Onset
- X-Linked Genetic Diseases