Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

Yiouli P. Ktena, Scott M. Paul, Natalie S. Hauser, Jennifer L. Sloan, Andrea Gropman, Irini Manoli, Charles P. Venditti

Research output: Contribution to journalArticle

Abstract

Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to optimize societal independence and quality of life. Thirty-seven individuals with isolated MMA (28 mut, 5 cblA, 4 cblB), aged 2-33 years, were enrolled in a natural history study, and underwent age-appropriate clinical assessments to characterize impairments and disabilities. Neurological examination and brain imaging studies were used to document movement disorders and the presence of basal ganglia injury. A range of impairments and disabilities were identified by a team of physical medicine experts. Movement disorders, such as chorea and tremor, were common (n=31, 83%), even among patients without evidence of basal ganglia injury. Joint hypermobility (n=24, 69%) and pes planus (n=22, 60%) were frequent and, in many cases, under-recognized. 23 (62%) patients required gastrostomy feedings. 18/31 patients >4 years old (58%) had difficulties with bathing and dressing. 16 of 23 school-aged patients received various forms of educational support. Five of the 10 adult patients were employed or in college; three lived independently. Unmet needs were identified in access to rehabilitation services, such as physical therapy (unavailable to 14/31), and orthotics (unavailable to 15/22). We conclude that patients with MMA are challenged by a number of functional limitations in essential activities of mobility, self-care, and learning, in great part caused by movement disorders and ligamentous laxity. Early assessment, referral, and implementation of age-appropriate rehabilitation services should significantly improve independence and quality of life.

Original languageEnglish (US)
Pages (from-to)2075-2084
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number9
DOIs
StatePublished - Sep 1 2015
Externally publishedYes

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Rehabilitation
Movement Disorders
Basal Ganglia
Quality of Life
Flatfoot
Joint Instability
Chorea
Physical and Rehabilitation Medicine
Gastrostomy
Wounds and Injuries
Neurologic Examination
Tremor
Bandages
Self Care
Methylmalonic acidemia
Natural History
Neuroimaging
Referral and Consultation
Learning

Keywords

  • Basal ganglia
  • Disabilities
  • Methylmalonic acidemia
  • Outcome
  • Rehabilitation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ktena, Y. P., Paul, S. M., Hauser, N. S., Sloan, J. L., Gropman, A., Manoli, I., & Venditti, C. P. (2015). Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). American Journal of Medical Genetics, Part A, 167(9), 2075-2084. https://doi.org/10.1002/ajmg.a.37127

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). / Ktena, Yiouli P.; Paul, Scott M.; Hauser, Natalie S.; Sloan, Jennifer L.; Gropman, Andrea; Manoli, Irini; Venditti, Charles P.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 9, 01.09.2015, p. 2075-2084.

Research output: Contribution to journalArticle

Ktena, Yiouli P. ; Paul, Scott M. ; Hauser, Natalie S. ; Sloan, Jennifer L. ; Gropman, Andrea ; Manoli, Irini ; Venditti, Charles P. / Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 9. pp. 2075-2084.
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