509 - Rehabilitation Management in an Adult with Ullrich Congenital Muscular Dystrophy

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

HC

Harrison Chan, n/a

Medical Student - OMS 4
Alabama College of Osteopathic Medicine
College Point, New York, United States

Co-Author(s)

JP

Janay E. Parrish, MD

Resident Physician
Rutgers NJMS
Jersey City, New Jersey, United States
MS

Moshe Spatz, MD

Resident Physician
Rutgers NJMS
Passaic, New Jersey, United States
ML

Mylan Lam, MD

clinical chief of Spinal Cord Injury Services
Kessler Institute for Rehabilitation
livingston, New Jersey, United States

Case Diagnosis: Ullrich congenital muscular dystrophy (UCMD) is a genetic disorder associated with collagen VI mutations. It may be caused by autosomal recessive or autosomal dominant mutations of the COLA gene. UCMD is characterized by generalized muscle weakness and atrophy, proximal joint contractures, distal joint hyperlaxity, and progressive respiratory failure.

Case Description: We describe the clinical rehabilitation course of a 21-year-old male with UCMD who presented to the emergency department with respiratory failure. The patient was intubated upon admission with a tracheostomy and gastrostomy tube placed shortly afterward. After a month in acute care hospitalization, he was discharged to acute inpatient rehabilitation where he presented with chronic progressive upper extremity loss of range of motion, restricted diet because of new-onset dysphagia, and required assistance for all mobility and activities of daily living (ADL). A comprehensive rehabilitation program was developed to focus on his medical issues including respiratory, bowel, bladder, as well as initiation of speech/language pathology, and physical and occupational therapies. After 6 weeks he has made significant improvements including successfully weaning off the ventilator, progression to solid food, improvement in the clarity of his voice, able to feed himself independently, with improved mobility and ADL.

Discussions: UCMD is now considered part of the severe end of the COLA phenotypic spectrum with Bethlem myopathy considered the mild form. Reports have provided a consistent progression of the disease with the diagnosis made when delayed motor milestones present. Hypotonia and weakness associated with hyperlaxity, contractures, and deformities are usually seen in the proximal joints.

Conclusions: The understanding of the disease process, the underlying medical complications, and the importance of comprehensive interdisciplinary rehabilitation is critical to offer individuals with UCMD maximization of their functional outcome and quality of life.