Involvement Of Lower Limb Muscles Research Articles

Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement.

Introduction: Paraspinal muscles are important for gross motor functions. Impairment of these muscles can lead to poor postural control and ambulation difficulty. Little knowledge exists about the involvement of paraspinal muscles in Becker muscular dystrophy.Objective: In this cross-sectional study, we investigated the involvement of paraspinal muscles with quantitative trunk strength measure and quantitative muscle MRI.Methods and Materials: Eighteen patients with Becker muscular dystrophy underwent trunk, hip, and thigh strength assessment using a Biodex dynamometer and an MRI Dixon scan. Fourteen age- and body mass index-matched healthy men were included for comparison.Results: Muscle fat fraction (FF) of the paraspinal muscles (multifidus and erector spinae) was higher in participants with Becker muscular dystrophy vs. healthy controls at all three examined spinal levels (C6, Th12, and L4/L5) (p < 0.05). There was a strong and inverse correlation between paraspinal muscle FF and trunk extension strength (ρ = −0.829, p < 0.001), gluteus maximus FF and hip extension strength (ρ = −0.701, p = 0.005), FF of the knee extensor muscles (quadriceps and sartorius) and knee extension strength (ρ = −0.842, p < 0.001), and FF of the knee flexor muscles (hamstring muscles) and knee flexion strength (ρ = −0.864, p < 0.001). Fat fraction of the paraspinal muscles also correlated with muscle FF of the thigh muscles and lower leg muscles.Conclusion: In conclusion, patients with Becker muscular dystrophy demonstrate severe paraspinal muscular involvement indicated by low back extension strength and high levels of fat replacement, which parallel involvement of lower limb muscles. Assessment of paraspinal muscle strength and fat replacement may serve as a possible biomarker for both the clinical management and further study of the disease.

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.

The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.

Dissociated lower limb muscle involvement in amyotrophic lateral sclerosis and its differential diagnosis value

To explore differential diagnosis value of dissociated lower-limb muscle impairment, we performed a retrospective analysis of clinical and electrophysiological features in 141 lower-limb involved ALS patients, 218 normal controls, 67 disease controls, and 32 lumbar spondylosis disease patients. The dissociated lower-limb muscle impairment was quantified by plantar flexion and dorsiflexion strength, compound muscle action potentials ratio of peroneal and tibial nerves (split index, SI) and semi-quantitative scoring scale of denervation potential. Clinical features: the proportion of decreased dorsiflexion was higher than decreased planter flexor strength in lower-limb involved ALS (77.2%vs 38.3%). Electrophysiological features: (1) SI in ALS was the lowest among four groups (Test statistic = 40.57, p < 0.001). (2) Percentage of positive denervation potential was higher in tibialis anterior than gastrocnemius muscle (χ2 = 87.12, p < 0.001). ROC curve: the SI cutoff was 0.52 and 0.33 respectively to differentiate ALS from lumbar spondylosis disease and peripheral neuropathy. Lower-limb involved ALS patients exhibited “split leg” phenomenon. The SI value could be used as an electrophysiological marker to differentiate ALS from lumbar spondylosis disease and peripheral neuropathy.

Pattern of muscle involvement in dermatomyositis – A retrospective analysis using STIR MRI imaging

All patients with suspected Idiopathic Inflammatory Myopathy, over a 4 year period - from August 2014 to August 2018, seen in the departments of Neurology and Rheumatology of Aster Medcity, Kochi, India, were included in the retrospective analysis. 28 patients with DM were selected, who fulfilled the EULAR/ACR classification criteria. Of the 28 patients, 17 patients who had undergone fat suppression sequence, short tau inversion recovery (STIR) MRI muscle imaging were selected. The MRI images were collated and analysed by a single examiner who has over 4 years of experience with muscle MRI. Of the 17 patients with STIR imaging, 12 underwent a whole-body MRI and 5 underwent thigh muscle MRI only. We found that 76% patients were women, with a mean age of 48 yrs. 13 were adult DM, 3 were amyopathic DM and 1 case was a juvenile DM (9 years). The mean disease duration was 10.8 months, and the mean time to MRI from diagnosis and initiation of treatment was 4.7 months except in 3 cases who presented very late (1-2 years after onset). Most muscle changes were patchy, involving muscles asymmetrically. 70% cases showed involvement of lower limb muscles. And 30% showed upper limb and trunk muscle involvement. Paraspinal muscles and shoulder girdles were involved in 50% patients in whom whole-body MRI was performed. Interestingly, the muscles involved the most were the thigh (anterior and posterior compartment muscles), calf muscles, the glutei and pelvic muscles. The pelvic muscles were frequently involved (47%), especially obturator internus and externus.

Monomelic Amyotrophy Involving Contralateral Upper and Lower Extremities with an Atypical Involvement of Lower Limb Muscles in a North-American Hispanic Female: Case Report and Review of Literature

Monomelic Amyotrophy Involving Contralateral Upper and Lower Extremities with an Atypical Involvement of Lower Limb Muscles in a North-American Hispanic Female: Case Report and Review of Literature

P2.64 Muscle imaging in hereditary inclusion-body myopathy

Hereditary inclusion-body myopathy or distal myopathy with rimmed vacuoles (h-IBM/DMRV) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Along with the typical phenotype, characterized by the involvement of distal leg muscles starting in early adulthood and quadriceps sparing, uncommon presentations with non-canonical phenotype and unusual muscle biopsy findings are increasingly recognized. The aim of our study was to characterize pelvic and lower limb muscle involvement in h-IBM, thus providing clues for the diagnosis especially in the presence of atypical clinical or pathological features.