1645 - Removing the Anchor — Physiatry Consult Prevents Unsafe Discharge Through Identification of Rare Neuromuscular Disorder

Case Diagnosis: Impaired mobility secondary to neuromuscular disorder

Case Description: A 56-year-old woman with chronic multijoint pain presented to the ED with three months of progressive weakness and two weeks of slurred speech. Previously independent with a walker, she now required maximal assistance for stand-pivot transfers. Initial imaging was unremarkable, and she was planned for discharge following a UTI diagnosis. Physiatry was consulted for rehabilitation evaluation and discharge planning.

On examination, the physiatrist noted bilateral upper and lower extremity weakness, dysarthria, impaired coordination, and abnormal sensation in a stocking-glove distribution. Reflexes were diminished, without clonus or Hoffman’s sign, raising concern for peripheral neuropathy. Physiatry recommended canceling discharge for an urgent EMG/NCS, which further revealed axonal sensory neuropathy and features of myopathy. A muscle biopsy suggested lipid storage myopathy, often due to genetic mutations or carnitine deficiency. Riboflavin and carnitine supplementation were started, allowing for targeted treatment.

Discussions: This case highlights the physiatrist’s critical role in identifying missed or evolving diagnoses. The patient’s symptoms were initially attributed to chronic pain, a UTI, and deconditioning. With a thorough physical exam, the physiatrist identified neurological deficits missed during previous evaluations. Recognizing the need for additional imaging and laboratory workup, the physiatrist also noted the absence of essential equipment (e.g., hospital bed, wheelchair, transfer board) needed to support safe mobility at home and in the community. This comprehensive assessment of the patient’s functional status and discharge needs prevented an unsafe transition home and prompted continued inpatient care.

Conclusions: Anchoring bias—relying too heavily on an initial diagnosis—can lead to missed recognition of other conditions. Physiatrists independently reassess patients with a multidimensional perspective, offering functional insights that support accurate diagnosis and safe discharge. This case underscores the value of physiatry in detecting subtle, significant findings and ensuring patients receive adequate support beyond the immediate diagnosis.