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Concurrence of myotonic dystrophy and epilepsy: a case report.

Worku DK - J Med Case Rep (2014)

Bottom Line: A needle electromyography showed insertional classic myotonic discharges.His muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes, and a preferential atrophy of type I fibers.This is a rare occurrence of two distinctive hereditary diseases.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Addis Ababa University, Addis Ababa 29818, Ethiopia. davulala@yahoo.com.

ABSTRACT

Introduction: Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population.

Case presentation: A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for idiopathic generalized epilepsy for over 15 years. A needle electromyography showed insertional classic myotonic discharges. A nerve conduction study showed mild axonal sensorimotor polyneuropathy. His muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes, and a preferential atrophy of type I fibers.

Conclusion: This is a rare occurrence of two distinctive hereditary diseases.

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Muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers.
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Fig1: Muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers.

Mentions: A muscle biopsy showed marked increase of internalized nuclei (arrayed in chains in longitudinal section), severely atrophic muscle fibers with pyknotic nuclear clumps, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes such as sarcoplasmic masses and ring fibers, and a preferential atrophy of type I fibers (FigureĀ 1).Figure 1


Concurrence of myotonic dystrophy and epilepsy: a case report.

Worku DK - J Med Case Rep (2014)

Muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4301074&req=5

Fig1: Muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers.
Mentions: A muscle biopsy showed marked increase of internalized nuclei (arrayed in chains in longitudinal section), severely atrophic muscle fibers with pyknotic nuclear clumps, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes such as sarcoplasmic masses and ring fibers, and a preferential atrophy of type I fibers (FigureĀ 1).Figure 1

Bottom Line: A needle electromyography showed insertional classic myotonic discharges.His muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes, and a preferential atrophy of type I fibers.This is a rare occurrence of two distinctive hereditary diseases.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Addis Ababa University, Addis Ababa 29818, Ethiopia. davulala@yahoo.com.

ABSTRACT

Introduction: Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population.

Case presentation: A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for idiopathic generalized epilepsy for over 15 years. A needle electromyography showed insertional classic myotonic discharges. A nerve conduction study showed mild axonal sensorimotor polyneuropathy. His muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes, and a preferential atrophy of type I fibers.

Conclusion: This is a rare occurrence of two distinctive hereditary diseases.

Show MeSH
Related in: MedlinePlus