Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

“…Myalgia was described less often. 14,21,23 One case was associated with scoliosis, 24 and another was characterized by an axial myopathy with prominent involvement of the spine extensors. 22 The most consistent findings in muscle biopsies were type I fiber predominance, increased number of central nuclei, and the absence of enzymatic staining on SDH and NADHtetrazolium reductase.…”

“…[8][9][10][11] The onset of MmD is usually in infancy or childhood with hypotonia or proximal weakness, and only a limited number of cases have been reported with onset in adult life. [12][13][14][15] These are occasionally associated with progressive muscle weakness and respiratory or cardiac failure.…”

Reverse fiber type disproportion: A distinct metabolic myopathy

“…As a group, the subjects exhibited remarkably similar symptoms of muscle pain and fatigue upon physical exertion. Interestingly, in another study, these symptoms were also exhibited by 2 individuals diagnosed with type I fiber predominance, suggesting that symptoms are not specifically dependent on the altered muscle metabolism due to type II fiber predominance . These other subjects were diagnosed with a congenital fiber type disproportion myopathy; however, the appearance of symptoms was not apparent at birth or early childhood, at which point the symptoms worsened in severity.…”

“…Ventilatory capacity was measured before each test by a maximum voluntary ventilation maneuver (MVV). At the end of the study, perceived exertion was rated using the Borg scale (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20), and a 100-mm visual analog scale was used to assess breathlessness.…”

Estudo da cadeia transportadora de elétrons na intolerância ao exercício decorrente de deleções múltiplas no DNA mitocondrial

“…Pode ocorrer com qualquer tipo de atividade física, incluindo as atividades corriqueiras de caminhar, mesmo dentro de casa, e realizar os cuidados pessoais, como tomar banho, escovar os dentes e pentear os cabelos. Portanto IE é um termo abrangente que não se relaciona a um único evento patológico, apresentando etiologias variadas (SOBREIRA et al, 2003;LAFORÊT & VIANEY-SABAN, 2010). De fato, o estabelecimento de um diagnóstico etiológico em situações clínicas em que a IE é o sintoma predominante é um desafio, mesmo nos dias atuais.…”