Mitochondrial diseasesAn overview of neurological and neuromuscular signs in mitochondrial diseasesDiversité des atteintes neurologiques et neuromusculaires dans les maladies mitochondriales héréditaires
Section snippets
Muscular manifestations of MiDs
The most evocative signs of MiDs remain the muscular signs, particularly ocular myopathy and exercise intolerance. Progressive external ophthalmoplegia (PEO) is characterized by progressive weakness or paresis of the extraocular eye muscles leading to bilateral gaze limited in all directions, usually without diplopia, and associated with ptosis. Ptosis may be also isolated. Myopathy begins usually in the teens or during adulthood and can occasionally be congenital. The weakness is slowly
Cerebellar ataxia
Ataxia is one of the most prevalent clinical CNS manifestations of MiDs, but is not specific. Ataxia is usually either cerebellar, due to cerebellum involvement, or sensory due to a spinal or peripheral lesion, but both are most frequently associated in MiDs. In this section, we present only phenotypes including at least a predominant cerebellar ataxia, but not an isolated sensory ataxia.
Polyneuropathy
Polyneuropathy is frequently reported in MiDs, but rarely as an isolated or dominant feature, except in some phenotypes including particularly NARP syndrome, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, isolated sensory or sensorimotor axonal neuropathy due to POLG mutations [38], [42], [43], [74] or SANDO due to POLG [40].
MPV17 recessive mutations were reported in patients with adult-onset progressive peripheral neuropathy and liver cirrhosis associated with
Disclosure of interest
The authors declare that they have no conflicts of interest concerning this article.
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Neuromuscular Manifestations in Mitochondrial Diseases in Children
2016, Seminars in Pediatric NeurologyCitation Excerpt :Cells are able to tolerate high percentage levels of mutated mtDNA. Thus, the phenotypic expression of a pathogenic mtDNA mutation would be evident only if the number of mutant mtDNAs exceeds a certain threshold, which varies among tissues (30%-80% of mutated mtDNA), depending on their constitutive and acute requirements for OXPHOS.2,7 Mutations in mtDNA that impair mitochondrial protein synthesis include mtDNA rearrangements (deletions or duplications), mutations in transfer RNA (tRNA) genes, and mutations in protein-coding genes.2,7
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