Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3.

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.

Haberlova J1, Mitrović Z2, Zarković K3, Lovrić D4, Barić V5, Berlengi L6, Bilić K7, Fumić K7, Kranz K1, Huebner A8, von der Hagen M9, Barresi R1, Bushby K1, Straub V1, Barić I10, Lochmüller H11.

Abstract

We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with intellectual disability and psychotic, in particular hallucinatory symptoms and abnormal brain MRIs, preceding classical symptoms of limb-girdle muscular dystrophy by several years. Weakness became apparent in early adulthood and both siblings remained ambulant into the 3rd and 4th decade of life. The muscle biopsy showed reduced α-dystroglycan compatible with the POMT1 defect. This case report extends the phenotypic spectrum of POMT1 associated muscular dystrophies to the adult onset limb girdle muscular dystrophies with psycho-organic deficits.

PMID:

25088310