Mental retardasyon tanısı alan myotonik muskuler distrofi olgusu

Objective & Hypothesis:Myotonic muscular dystrophy is a multisystem disease inherited as an autosomal dominant trait characterized by progressive muscle weakness, atrophy and myotonia.

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Key Findings & Data:We an 11-year-old boy erroneously labelled as mentally retarted due to the presence of myopathic facial appearence.

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Conclusion & Impact:We emphasise the importance of considering an underlying myopathic condition in the differential diagnosis of mental retardation.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Myotonic muscular dystrophy is a multisystem disease inherited as an autosomal dominant trait characterized by progressive muscle weakness, atrophy and myotonia. Mental retardation may be a symptom of the disorder, but not always in this way. We an 11-year-old boy erroneously labelled as mentally retarted due to the presence of myopathic facial appearence. We emphasise the importance of considering an underlying myopathic condition in the differential diagnosis of mental retardation.

Özet

Miyotonik musküler distrofi; miyotoni, ilerleyici kas güçsüzlüğü ve atrofisi ile karakterize otozomal dominant geçişli multisistem bir hastalıktır. Mutat olmamasına rağmen mental retardasyon bu hastalığın ilk semptomu olabilir. Miyopatik yüz görünümü nedeniyle yanlış olarak mental retardasyon tanısı alan on bir yaşında bir erkek çocuk sunuluyor. Mental retardasyonun ayırıcı tanısında altta yatan bir miyopatik durumun düşünülmesinin önemini vurguluyoruz

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Cite This Article

TURANLI, G., AKTAŞ, F., TAN, H. (2022). Mental retardasyon tanısı alan myotonik muskuler distrofi olgusu. İnönü Üniversitesi Tıp Fakültesi Dergisi, Cilt: 11 - Sayı: 3, 177–179. https://ajindex.com/articles/548838

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