Role of Physical Therapy in the Assessment and Management of an Individual with Myotonic Dystrophy
Physical therapists are healthcare professionals who hold a post-baccalaureate graduate degree (MPT, DPT) from a college or university. They also may be certified specialists in an area of expertise, such as pediatrics (PCS), geriatrics (GCS), neurologic (NCS), cardiopulmonary (CCS) or orthopedic physical therapy (OCS). Physical therapists practice in a variety of settings including hospitals and nursing homes, outpatient clinics, home health care, and schools.1 Most adults with DM will probably first encounter a physical therapist in the multidisciplinary clinic where they receive care for their muscular dystrophy related problems. In this setting, the physical therapist plays a consultative role providing evaluation, education and recommendations based on individual patient needs. They may also act as a liaison and help coordinate care with school or community based therapists who may be providing direct care as necessary. Some common areas that will be addressed by physical therapists are exercise, pain management, orthotics/braces and assistive/adaptive equipment to maintain maximal functional ability, delay secondary complications and improve quality of life.
As you know, myotonic dystrophy is the most common form of muscular dystrophy in adults. It is an autosomal dominant disorder, which means that a person carrying the gene has a 50-50 chance of passing it on to a child. It is a multisystemic disorder that affects the muscular, respiratory, cardiac, nervous, and endocrine systems. Currently 2 variants of DM are recognized – DM1 which arises from a defect on chromosome 19 and DM2 which results from a defect on chromosome 3. DM1 was first described in the early 1900’s and hence is a much better studied entity while DM2 was only described in the past decade and hence we still have a lot to learn regarding this phenotype. Individuals with DM1 can present with symptoms at different ages; at birth (congenital), during childhood (pediatric), during adulthood, or later in life and thus four clinical phenotypes are described in the literature. Individuals with DM1 primarily exhibit facial and distal limb weakness whereas individuals with DM2 exhibit proximal weakness. Muscle pain and myotonia are also prominent features of DM2. Muscle related problems - weakness, wasting, and myotonia - are very often the concerns that lead individuals to seek attention and help from physical therapists. However, as we know, DM is a multisystemic disorder and hence it is essential to understand all the systemic complaints/problems each individual has and help manage the muscle related symptoms in the overall context of concerns.2, 3 Congenital myotonic dystrophy and childhood onset myotonic dystrophy have unique features, and therefore, we have chosen to address the physical therapy management of these conditions separately later is this section.
