The Importance of a PM&R Consultation for Becker Muscular Dystrophy Patients Admitted with Cardiomyopathy.

Becker muscular dystrophy (BMD) is a rare genetic disorder that is associated with significant cardiac compromise, including heart failure and cardiomyopathy. Given the significant cardiac impact of the disease, patients are commonly hospitalized under the care of cardiologists. While it is imperative to address the acute cardiac challenges these patients face, it is crucial to not disregard the musculoskeletal derangement that occurs from this underlying disease and how acute hospitalization can exacerbate these issues. While literature focuses heavily on providing management protocols to address these acute cardiac complications, it is also important for providers to feel supported in addressing the functional implications that hospitalized BMD patients may face. An early PM&R consultation in the inpatient setting can be useful in identifying and addressing the functional impairments and subsequent comorbidities of BMD patients. PM&R teams can provide oversight from multiple avenues including the psychosocial, neurocognitive, durable medical equipment, and pain management perspectives and assist with transition of care to the postacute rehabilitation setting. The ultimate goal of the PM&R provider is to work alongside the primary service and patient in order to assist with retaining independence, improving patient satisfaction, and most importantly improving quality of life both inside and outside of the hospital setting.

Delayed amyotrophic lateral sclerosis diagnosis with subtle cardiac manifestations: Was anchoring bias contributory?

Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease affecting both upper and lower motor neurons. Throughout medical training, it is taught that the most recognizable clinical presentation involves both motor and bulbar changes. Given the complexity of the diagnosis however, it is no surprise that there is significant multisystem involvement secondary to the autonomic dysfunction associated with the disease. The clinical cognitive biases that exist due to prior educational training and patient provided chief complaint can mislead clinicians and prevent a holistic, inclusive approach toward each patient encounter. This can delay diagnosis and increase unnecessary healthcare spending. In a disease with such a poor prognosis, this effect can be catastrophic, resulting in unacceptable medical, functional, and psychosocial outcomes. As clinicians, it is imperative to acknowledge these cognitive biases through introspection, which can improve clinical outcomes and ultimately patient quality of life for those facing this devastating disease. We report a case of a 55-year-old female who presented with a chief complaint of palpitations and minimal slurred speech on multiple encounters, subsequently leading to a focused cardiovascular workup. It was not until after several hospital encounters that a thorough functional and neuromuscular exam was performed, which ultimately helped to broaden the differential and lead to the diagnosis of ALS. Unfortunately, due to this delayed diagnosis, the patient's functionality was beyond repair. Given the underlying cognitive biases that are present in all clinicians, we hypothesize this patient's sex, presenting symptom, and primary chief complaint misled clinicians to perform limited history and physical examinations, therefore, leading to a narrowed differential. If diagnosed in a timely fashion, vital services such as rehabilitation could have provided this patient with the necessary medical, functional, and psychosocial support to face this devastating disease.

Systemic pain relief after omalizumab injection in patient with hypermobile Ehlers-Danlos syndrome: A case report.

Omalizumab may be a beneficial adjunct treatment option for hEDS patients require to improve pain control, ability to perform ADLs and functionality and social engagement, and most importantly, quality of life.