Adult polyglucosan body disease - Management and evolution in an intensive rehabilitation program

I Carneiro; M Rodrigues; A João Costa; R Cadilha; A Lima

doi:10.1016/j.rh.2020.06.009

Adult polyglucosan body disease - Management and evolution in an intensive rehabilitation program

Rehabilitacion (Madr). 2021 Apr-Jun;55(2):161-163. doi: 10.1016/j.rh.2020.06.009. Epub 2020 Oct 31.

Authors

I Carneiro¹, M Rodrigues², A João Costa², R Cadilha², A Lima²

Affiliations

¹ North Rehabilitation Center, Portugal. Electronic address: ismael.crn7@gmail.com.
² North Rehabilitation Center, Portugal.

PMID: 33139012
DOI: 10.1016/j.rh.2020.06.009

Abstract

Adult polyglucosan body disease is a rare neuromuscular genetic disorder. It is characterized by accumulation of an abnormal structural form of glycogen, particularly in central and peripheral nervous system and muscles. Functional impairments and the rehabilitation approach of this entity is rarely reported. We present a case of a 65-year-old female with several years of undiagnosed symptoms. One year after the diagnosis, the patient was evaluated for the first time in a physical and rehabilitation consultation. We describe the inpatient rehabilitation program - an approach planned to achieve high levels of treatment intensity and with intervention of a multiprofessional and multidisciplinary team.

Keywords: Adult polyglucosan body disease; Enfermedad con cuerpos de poliglucosano en el adulto; Neuromuscular diseases rehabilitation; Rehabilitación de enfermedades neuromusculares.

Publication types

Case Reports

MeSH terms

Adult
Aged
Female
Glycogen Storage Disease
Humans
Nervous System Diseases
Referral and Consultation*
Retrospective Studies

Supplementary concepts

Polyglucosan Body Disease, Adult Form