Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB)

• Published in: American journal of medical genetics. Part A Vol. 179; no. 12; pp. 2481 - 2485
• Main Authors: Arvio, Maria, Määttänen, Laura, Haanpää, Maria, Lähdetie, Jaana
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-12-2019; Wiley Subscription Services, Inc
• Subjects: Abrasion; Adolescents; Brain diseases; dystroglycanopathia; Epilepsy; Eye; Intellectual disabilities; Intestine; MEB; muscle‐eye‐brain disease; Muscular dystrophy; Mutation; POMGNT1 gene; Rare diseases; Sleep; Sleep and wakefulness; POMGNT1 gene; MEB; muscle-eye-brain disease; dystroglycanopathia
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.61369

Muscle‐eye‐brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy‐dystroglycanopathy type A3 (MDDGA3). It manifests itself as muscular dystrophy with eye and brain anomalies and intellectual disability. Previous clinical reports describe young patients. We have been able to follow two patients for almost 40 years. Their clinical picture has remained quite stable since adolescence, appearing as severe intellectual and motor disability, extremely limited communication skills, visual impairment, epilepsy, joint contractures, repeated bowel obstructions, teeth abrasion due to bruxism, an irregular sleep pattern and as a previously unreported feature hypothermic periods manifesting as excessive sleepiness.