Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Abstract : Similarities between a mitochondrial disorder (MID) and amyotrophic lateral sclerosis (ALS) fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome (MIMODS). However, with mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to the Neurological Hospital Rosenhügel, Vienna, Austria, in February 2001 with slowly progressive weakness, wasting and left upper limb fasciculations which spread to the shoulder girdle and lower limbs. Additionally, he developed tetraspasticity and bulbar involvement. He had been diagnosed with ALS a year previously due to electrophysiological investigations indicative of a chronic neurogenic lesion. However, a muscle biopsy revealed morphological features of a MID and a combined complex-II/III defect. Nerve conduction studies were performed over subsequent years until February 2011. This case demonstrates that MIDs may mimic ALS at onset and begin as a mono-organ disorder but develop into a multi-organ disease with long-term progression. A combined complex II/III defect may manifest with bulbar involvement.
Type de document :
Article dans une revue
Sultan Qaboos University Medical Journal, 2016, 〈10.18295/squmj.2016.16.01.017〉
Liste complète des métadonnées

Littérature citée [20 références]  Voir  Masquer  Télécharger

https://hal-riip.archives-ouvertes.fr/pasteur-01401373
Contributeur : Institut Pasteur Tunis <>
Soumis le : mercredi 23 novembre 2016 - 11:34:25
Dernière modification le : lundi 8 octobre 2018 - 17:44:08

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

Citation

Josef Finsterer, Sinda Zarrouk-Mahjoub. Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset. Sultan Qaboos University Medical Journal, 2016, 〈10.18295/squmj.2016.16.01.017〉. 〈pasteur-01401373〉

Partager

Métriques

Consultations de la notice

50