Duchenne Muscular Dystrophy in Females: A Rare Genetic Disorder and Occupational Therapy Perspectives

Abstract

As genetic technology rapidly advances, its effects on healthcare will inevitably change the way occupational therapists serve their clients. This change will include how the needs and goals of clients are met and achieved. It is, therefore, necessary that occupational therapists become educated and remain current in the field of genetics. Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder known as the most common form of muscular dystrophy in males. The majority of the available literature on DMD focuses on males, as the disorder is clinically very rare in females. This article reviews the basics of genetics and explains the etiology of DMD in females. A case example of a young girl with DMD is provided to illustratethe occupational therapy implications of this rare genetic disorder.

Occupational Therapy in the Age of the Human Genome: Occupational Therapists’ Role in Genetics Research and Its Impact on Clinical Practice

“…Although certain aspects of genetics research such as cloning and genetic engineering have drawn the most public attention, genetics will see its greatest impact through its effects on everyday life and in everyday health care. Therefore, occupational therapy professionals and other health care providers will play key roles in the use of genetics information in their practice (Kyler & Thomas, 2000;Lou, 2001;Schroeder-Smith, Tischenkel, DeLange, & Lou, 2001).…”

“…In occupational therapy, understanding a client's genetic makeup and predisposition to conditions can also prove valuable for treatment planning and developing intervention strategies (Kyler & Thomas, 2000;Lou, 2001). Occupational therapy professionals can tailor goals toward individual clients more effectively by recognizing a person's predisposition for a particular condition and the potential impact on participation in future occupations (Schroeder-Smith et al, 2001). For example, when working with clients identified with susceptibility variants related to Type II diabetes, occupational therapists should be positioned to work with those clients in designing lifestyle plans for promoting healthy habits and routines (Jackson et al, 1998).…”

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module

“…With the rapid advancement of knowledge in the field of human genetics, it has become increasingly imperative for occupational therapists to possess a comprehensive understanding of rare genetic disorders to effectively provide healthcare services to their clients [1]. Barth syndrome (BTHS) is a rare, X-linked disorder found primarily in boys [2].…”