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- W2755586999 abstract "The spinal muscular atrophies (SMAs) implicate a group of autosomal-recessive disorders characterized by progressive weakness of the lower motor neurons. SMA type 3 is a milder form that clinical symptoms appear between 18 months and 18 years of age. It is characterized by slowly progressive proximal weakness. The lower extremities are often more severely affected than the upper extremities. The aim of this study was to analyze MRI findings of muscles of the pelvic girdle and lower limbs in patients with SMA type 3. We investigated 27 patients with genetically-confirmed SMA type 3. MRI studies were performed on a 1.5 Tesla scanner; T1w, T2w and STIR images obtained at pelvic girdle, thigh and calf levels. Acquired scans were retrospectively analyzed and scored for severity. There were 17 male and 10 female patients. Their age ranged between 6 and 64 years (mean 22.56 years), 16 were ambulant and 11 non-ambulant. The mean age at symptom onset was 5.5 years (range, 1.5–18 years) and average disease duration was 17.4 years (range, 3–49 years). At the level of pelvic girdle, MRI revealed significantly more severe involvement of the iliopsoas muscle than of the gluteus maximus muscle. At the thigh level, there was more severe involvement of the quadriceps muscles than of the hamstrings. The soleus muscle was the most severely affected at the calf level. All muscle groups were affected in non-ambulant patients. There was an asymmetrical involvement of at least one muscle in 10 patients. The correlations between the MRI and MRC scores and disease duration were also analyzed. SMA type 3 clinically constitutes a heterogeneous group of disorders. Muscle MRI is a useful, noninvasive tool for establishing the distribution and severity of affected muscles in SMA. Serial MRI studies may help to evaluate treatment effectiveness as an objective biomarker in addition to clinical functional measurements in clinical trials." @default.
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- W2755586999 date "2017-10-01" @default.
- W2755586999 modified "2023-10-18" @default.
- W2755586999 title "Muscle MRI findings in spinal muscular atrophy type 3" @default.
- W2755586999 doi "https://doi.org/10.1016/j.nmd.2017.06.113" @default.
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