The EMG results were, however, based on qualitative EMG examination and the histopathological methods were not always clear. The objective of this study was to investigate if the previous EMG findings could be
Muscle MRI represents a sensitive biomarker of disease activity, severity, and progression in DM1. STIR alterations precede fat replacement and identify patients with a higher risk of disease progression, while T1-sequences reveal atrophy and fat replacement progression before clinical worsening. ...
Genetic or pharmacological abrogation of IL-1 action reduces disease incidence in animal models of type 1 diabetes mellitus (T1DM) and clinical trials have been started to study the feasibility, safety and efficacy of IL-1 therapy in patients with T1DM. Here, we review the rationale for ...
Charcot-Marie-Tooth disease type 4 (CMT4) is a rare type of CMT that causes damage to the myelin sheath, an insulating fat-rich layer surrounding nerve fibers that connect the brain and spinal cord to the motor and sensory muscles. The resulting muscle weakness is the hallmark of CMT4. ...
(where central vision originates), macular edema can occur and cause disruption in light transmission and visual acuity. Macular edema cannot be observed directly but is suggested by the presence of hard exudates close to the maculae. Any of these findings should prompt immediate referral ...
demonstrating that the failure of SC participation in repair is related to an activation signal defect. Altogether, our findings provide new insight into the pathophysiology of Pompe disease and highlight that the activation signal defect of SCs compromises muscle repair, which could be related to th...
Skeletal muscle atrophy is one of the clinical symptoms of myotonic dystrophy type 1 (DM1). A decline in skeletal muscle regeneration is an important contributor to muscle atrophy. Skeletal muscle satellite cells (SSCs) drive skeletal muscle regeneration
Along with lack of muscle tone, SMA type 1 babies may develop bulbar weakness and be unable to suck and swallow, potentially leading to aspiration (food or liquid in the lungs) and nutritional deficiencies.Disease-modifying therapies have changed the prognosis of infants born with SMA type 1, ...
, 17.. Similarly, an AAV vector containing the MCK promoter driving β-galactosidase expression in mdx mouse muscle evoked an attenuated immune response compared to an analogous AAV vector containing the CMV promoter [18]. As an extension of these earlier studies, AAV vectors encoding hGAA ...
Following in vivo injury, we established that muscle retains regenerative potential, demonstrating that the failure of SC participation in repair is related to an activation signal defect. Altogether, our findings provide new insight into the pathophysiology of Pompe disease and highlight that the ...