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Background Selective involvement of certain muscles is an indicator for muscle diseases and helps to direct the diagnosis, but in some cases, it cannot be detected clinically; hence, the roles of muscle MRI and ultrasound are to detect this selectivity and facilitate the diagnosis. Objectives The possibility of using muscle ultrasound as a screening tool when muscle diseases are suspected and as an alternative to MRI. Subjects and methods This cross-sectional descriptive study included 38 patients presented with clinical manifestations suggestive of muscle diseases. The patients were selected over a period of 1 year. All patients were subjected to thorough clinical assessment and muscle ultrasound of the thigh and leg for all patients, while 15 were subjected to MRI. Clinical and radiological assessments were performed separately, followed by both clinical and radiological findings to assess the power of combining the clinical and radiological assessments for the diagnosis of muscle diseases. Results The clinical assessment reached a main provisional probable diagnosis in 53% cases, and radiological assessment blind to clinical data suggested diagnosis in 18 of the total cases, while the combination of both ultrasound and MRI could suggest diagnosis in 87% of the cases. The concordance ratio of ultrasound to MRI ranged between 78 and 100%. Conclusion The combination of clinical and radiological assessments of muscle diseases can suggest a main provisional probable diagnosis, especially when genetic diagnosis is not accessible, or to direct the genetic testing when it is available. Ultrasound can be used as a routine tool in screening and follow-up of muscle diseases.

Muscle immunoanalysis of the sarcoglycan complex is an important part of the diagnostic evaluation of muscle biopsies in patients with autosomal recessive limb-girdle muscular dystrophy. Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). It has previously been suggested that different patterns of sarcoglycan expression could predict the primary genetic defect, and that genetic analysis could be directed by these patterns. In this first UK study we studied 24 genetically characterized patients with sarcoglycan deficient LGMD, in 22 of whom muscle immunoanalysis data were available. Thirteen patients showed alpha-sarcoglycan deficient LGMD2D, 7 patients beta-sarcoglycan deficient LGMD2E, 3 patients gamma-sarcoglycan deficient LGDM2C, and one patient delta-sarcoglycan deficient LGMD2F. Muscle biopsies were analysed in one centre without knowledge of the established genetic diagnosis. Our results demonstrated that residual sarcoglycan expression is highly variable and does not enable an accurate prediction of the genotype. Considering previous reports of sarcoglycanopathy patients with an isolated loss of one sarcoglycan we recommend to use antibodies against all four sarcoglycans for immunoanalysis of skeletal muscle sections. A concomitant reduction of dystrophin and beta-dystroglycan was observed more frequently than previously reported and illustrates the important differential diagnosis of DMD and BMD for sarcoglycan deficient LGMD.

Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service for patients with limb girdle muscle dystrophy in Newcastle. Myalgia was the most prominent symptom in our cohort of patients and for 50% it was the reason for referral. Muscle weakness was only found in 60% of the patients, whereas rippling muscle movement was present in 80%. One of the patients reported episodes of myoglobinuria and another one episodes of hypoglycaemia. Five different mutations were identified, two of which were novel and three that had previously been described. Caveolinopathy needs to be considered as a differential diagnosis in a range of clinical situations, including in patients who do not have any weakness. Indeed, rippling muscles are a more frequent symptom than weakness, and can be detected in childhood. Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life.

Objective: To assess the effects of additional electrical stimulation to hand muscles combined with repetitive task practice therapy on skilled hand performance in stroke patients. Design: A randomized controlled study. Setting: Neurological physical therapy outpatient clinic. Subjects: Forty stroke patients of both sexes (45-65 years - 16 females and 24 males). Methods: Participants were randomly assigned into two equal groups: experimental and control groups. All patients received repetitive task practice. Those in the experimental group received additional electrical stimulation for specific hand muscles and patients in the control group received sham electrical stimulation. Treatment was provided three times/week for two months. Main outcome measures: Patients received baseline and post-treatment assessments using three-dimensional motion analysis (to evaluate range of motion of fingers abduction and extension), motor assessment scale (to assess hand motor function) and time to complete Jebsen Taylor Test (to assess hand skills). Results: Patients in the experimental group showed a significant improvement as compared with those in the control group. Motor assessment scale score was 4.25±0.63 for the experimental group and 3.35±0.74 for the control group ( t=-3.50 and p= 0.0001). Time to complete Jebsen Taylor Test was 180.90±7.04 for the experimental group and 192.80±6.87 for the control group ( t=4.50 and p= 0.0001). There was a significant improvement in fingers abduction and extension in both groups (in favor to the experimental group). Conclusion: Repetitive task practice therapy combined with electrical stimulation can improve skilled hand performance in terms of hand motor function, skills and range of motion in stroke patients.

Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was established by reduction of dysferlin in the muscle biopsy and subsequent mutational analysis of the dysferlin gene. Seventeen mutations were novel; the majority of mutations were small deletions/insertions, and no mutational hotspots were identified. Sixty-one per cent of patients (22 patients) initially presented with limb girdle muscular dystrophy 2B, 31% (11 patients) with a Miyoshi phenotype, one patient with proximodistal mode of onset, one patient with muscle stiffness after exercise and one patient as a symptomatic carrier. A wider range of age of onset was noted than previously reported, with 25% of patients having first symptoms before the age of 13 years. Independent of the initial mode of presentation, in our cohort of patients the gastrocnemius muscle was the most severely affected muscle leading to an inability to stand on tiptoes, and lower limbs were affected more severely than upper limbs. As previous anecdotal evidence on patients affected by dysferlinopathy suggests good muscle prowess before onset of symptoms, we also investigated pre-symptomatic fitness levels of the patients. Fifty-three per cent of the patients were very active and sporty before the onset of symptoms which makes the clinical course of dysferlinopathy unusual within the different forms of muscular dystrophy and provides a challenge to understanding the underlying pathomechanisms in this disease.

Purpose To study the benefit of combining clinical and radiological assessments in the diagnosis of inherited muscle diseases. Subjects and methods This cross sectional study included 45 patients presenting with manifestations of muscle disease. They were subjected to thorough clinical assessment and MRI examination of thigh and leg muscles. Independent clinical and radiological assessments were performed followed by combining the clinical categorization and radiological signs together to assess the strength of collaborating the clinico-radiological assessments in diagnosis of rare muscle diseases. Results Clinical assessment suggested the diagnosis in 42% of the cases and radiological assessment blind to clinical data suggested the diagnosis in 20% of the cases. Combining both was able to suggest the diagnosis in 56% of the cases. Also the radiological assessment supported the clinical diagnosis of some rare muscle diseases uncommonly reported in Egypt. Conclusion Combining clinical and radiological assessments of muscle diseases is helpful to suggest a reliable diagnosis, especially in circumstances where genetic diagnosis is expensive or not accessible.