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Acta Neurol Scand. 2012 Apr;125(4):285-7. doi: 10.1111/j.1600-0404.2011.01608.x. Epub 2011 Oct 27.

Episodes of exercise-induced dark urine and myalgia in LGMD 2I.

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1
Department of Clinical Neuroscience and Physiology, Section of Clinical Neuroscience and Rehabilitation, Sahlgrenska University Hospital, Gothenburg, Sweden. christopher.lindberg@vgregion.se

Abstract

BACKGROUND:

Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD.

OBJECTIVES:

To describe that episodes with myoglobinuria, often associated with exercise-induced myalgia, may be common and a presenting symptom in patients with LGMD2I.

METHODS:

Data on episodes of suspected myoglobinuria and myalgia were collected from the patient records on 14 patients with a diagnosis of LGMDI.

RESULTS:

Five LGMD2I patients reported recurrent episodes of dark urine and myalgia after exercise, and in three of them, this was the only symptom for several years.

CONCLUSIONS:

We conclude that episodes compatible with exercise-induced myoglobinuria may be frequent in LGMD2I.

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