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Muscle Involvement (muscle + involvement)
Kinds of Muscle Involvement Selected AbstractsNeuromuscular involvement in various types of Ehlers,Danlos syndrome,ANNALS OF NEUROLOGY, Issue 6 2009Nicol C. Voermans MD Objective Ehlers,Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered interactions between muscle cells and extracellular matrix molecules; however, muscle symptoms are only sporadically reported. We designed a cross-sectional study to find out whether neuromuscular features are part of EDS. Methods Standardized questionnaires, physical examination, nerve conduction studies, electromyography, muscle ultrasound, and muscle biopsy were performed in 40 EDS patients with the vascular, classic, tenascin-X (TNX),deficient type EDS, and hypermobility type of EDS caused by TNXB haploinsufficiency. Results Muscle weakness, myalgia, and easy fatigability were reported by the majority of patients. Mild-to-moderate muscle weakness (85%) and reduction of vibration sense (60%) were common. Nerve conduction studies demonstrated axonal polyneuropathy in five patients (13%). Needle electromyography myopathic features in nine patients (26%) and a mixed neurogenic-myopathic pattern in most (60%). Muscle ultrasound showed increased echo-intensity (48%) and atrophy (50%). Mild myopathic features were seen on muscle biopsy of five patients (28%). Overall, patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. Interpretation Mild-to-moderate neuromuscular involvement is common in various types of EDS, with a remarkable relation between residual TNX level and degree of neuromuscular involvement, compatible with a dose,effect relation. The findings of this study should increase awareness of neuromuscular symptoms in EDS patients and improve clinical care. They also point to a role of the extracellular matrix in muscle and peripheral nerve function. This is an updated version of this article that originally published online on June 29, 2009. Ann Neurol 2009;65:687,697 [source] Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2005Anna-Karin Kroksmark PT Msc This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended. [source] A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 geneEUROPEAN JOURNAL OF NEUROLOGY, Issue 7 2007E. Matsubara A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene. [source] Electromyographic evaluation of cervical dystonia for planning of botulinum toxin therapyEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2000D. Dressler The success of botulinum toxin (BT) injections for treatment of cervical dystonia depends on precise identification of dystonic muscles and on quantification of their dystonic involvement. Conventionally, this is attempted by clinical examination analysing the dystonic head position. In this presentation, a more systematic approach is sought by using an electromyography (EMG)-based evaluation procedure. In 10 consecutive patients with cervical dystonia not previously exposed to BT clinical examination, analysing the dystonic head position was performed to classify patients into four groups with similar dystonic head positions. Additionally, a 2-channel concentric needle EMG was used to measure the amplitudes of dystonic and maximal voluntary activities in sternocleidomastoid (SCM), splenius capitis (SC) and trapezius/semispinalis capitis (T/SS) muscles bilaterally. The ratio between both amplitudes, the dystonia ratio, was used to quantify dystonic muscle involvement. In all patients dystonia ratios could be calculated. In patients with similar head positions, EMG evaluation revealed different qualitative and quantitative dystonic involvement patterns. In six patients, there were discrepancies in identification of dystonic muscles between clinical examination and EMG evaluation. EMG evaluation excluded dystonic involvement in five patients. All excluded muscles were SCM. In one of these patients, additional T/SS involvement was detected by EMG evaluation. In one patient, SC involvement was revealed by EMG evaluation. All dystonic muscle involvement detected by EMG evaluation represented genuine dystonic muscle coactivation rather than compensatory muscle activity. The EMG evaluation presented allows quantitative and qualitative identification of dystonic muscle involvement which cannot be achieved by clinical examination. Both pieces of information may be helpful for optimization of BT therapy. [source] Patterns of muscle involvement in inclusion body myositis: Clinical and magnetic resonance imaging studyMUSCLE AND NERVE, Issue 11 2001Beverley A. Phillips PhD Abstract The differential patterns of muscle involvement in the upper and lower limbs in sporadic inclusion body myositis (sIBM) were examined in 18 patients using both quantitative and manual muscle testing as well as magnetic resonance imaging (MRI) in 9 patients. Weakness of the quadriceps femoris and the forearm flexors was present in most patients, but there was considerable variability in the patterns and severity of muscle involvement. MRI disclosed preferential patterns of muscle involvement within functional groups such as the quadriceps femoris, in which there was severe involvement of the vasti with relative sparing of the rectus femoris, and the triceps surae, in which selective involvement of the medial gastrocnemius was common. Involvement of flexor digitorum profundus on MRI was found in only one third of patients. The results emphasize the variability in the clinical phenotype and differential susceptibility of muscles to the disease process in sIBM. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1526,1534, 2001 [source] Classic pyomyositis of the extremities as an unusual manifestation of Blastomyces dermatitidis: a report of two casesMYCOSES, Issue 4 2010Michael Y. Lin Summary Pyomyositis is an infection of skeletal muscle that, by definition, arises intramuscularly rather than secondarily from adjacent infection. It is usually associated with bacterial infection, particularly Staphylcococcus aureus. Fungi are rare causes, and Blastomyces dermatitidis has not been reported previously. In this case series, we report two cases of pyomyositis caused by B. dermatitidis. Cases were prospectively identified through routine clinical care at a single academic referral hospital. Two patients with complaints of muscle pain and subacute cough were treated at our hospital in 2007. Both patients were found to have pyomyositis caused by B. dermatitidis, in the quadriceps muscles in one patient, and in the calf muscle in another , by radiological imaging and fungal culture. Both were also diagnosed with pneumonia caused by B. dermatitidis (presumptive in one, confirmed in the other). There was no evidence of infection of adjacent structures, suggesting that the route of infection was likely direct haematogenous seeding of the muscle. A review of the literature confirmed that although B. dermatitidis has been described as causing axial muscle infection secondary to adjacent infection such as vertebral osteomyelitis, our description of isolated muscle involvement (classic pyomyositis) caused by B. dermatitidis, particularly of the extremity muscles, is unique. We conclude that B. dermatitidis is a potential cause of classic pyomyositis. [source] Pacemaker Malfunctions in Danon's DiseasePACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 1 2008ELENA MARRAS M.D. We describe a case of a 30-year-old man with Danon's disease, an X-linked genetic disorder due to deficiency of lysosomal-associated membrane protein 2 with secondary intracytoplasmatic glycogen and autophagic material storage. This disease is characterized by skeletal muscle involvement, mental retardation, ophthalmic abnormalities, and cardiac disease. In this patient, cardiac involvement was characterized by hypertrophic cardiomyopathy in young age, preexcitation, and parossistic atrioventriular block. The patient underwent to an implantable cardioverter defibrillator implantation for conduction disorders and for primary prevention of sudden death, a frequent event in Danon's disease. This case report describes cardiac involvement with conduction disorders and multiple pacemaker malfunctions in Danon's disease. [source] Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spineANNALS OF NEUROLOGY, Issue 2 2010Eugenio Mercuri MD Objective The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement. Methods We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes. The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery,Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects). The scans of 25 patients affected by other myopathies were also reviewed as a control group. The scans were compared with the previously described patterns. Results In 82% of the scans in the study group (68/83) the patterns were classified as "typical" of 1 of the 5 forms studied, and in 7 (8%) were consistent with 1 of the reported patterns but not entirely typical. With one exception, the patterns identified were always consistent with the appropriate genetic diagnosis. The remaining scans (9%) had only minimal changes and were uninformative. None of the scans of the 25 patients in the control group had patterns that could be classified as typical of the 5 forms examined. The sensitivity to detect selective patterns in relation to the genetic diagnosis was 0.9. Interpretation These findings suggest that muscle magnetic resonance imaging could be used in clinical practice as an additional tool in the differential diagnosis of muscle disorders with prominent spinal rigidity. ANN NEUROL 2010;67:201,208 [source] Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weaknessANNALS OF NEUROLOGY, Issue 5 2006Terumi Murakami MD Objective The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast with the severe dystrophic involvement of skeletal muscle, cardiac insufficiency is quite rare. Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of ,-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage. Methods Protein and functional analyses of ,-dystroglycan and mutation screening of FKTN and other associated genes were performed. Results Surprisingly, we identified six patients in four families showing dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence, associated with a compound heterozygous FKTN mutation. One patient died by rapid progressive dilated cardiomyopathy at 12 years old, and the other patient received cardiac implantation at 18 years old. Skeletal muscles from the patients showed minimal dystrophic features but have altered glycosylation of ,-dystroglycan and reduced laminin binding ability. One cardiac muscle that underwent biopsy showed altered glycosylation of ,-dystroglycan similar to that observed in a Fukuyama-type congenital muscular dystrophy patient. Interpretation FKTN mutations could cause much wider spectrum of clinical features than previously perceived, including familial dilated cardiomyopathy and mildest limb girdle muscular dystrophy. Ann Neurol 2006 [source] Tibial muscular dystrophy in a Belgian familyANNALS OF NEUROLOGY, Issue 2 2003Peter Y. K. Van den Bergh We report a Belgian family with autosomal dominant, late-onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50-year-old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease-specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations. Ann Neurol 2003 [source] Anti,U3 RNP autoantibodies in systemic sclerosisARTHRITIS & RHEUMATISM, Issue 4 2009Rohit Aggarwal Objective To describe the classification, demographic and clinical features, and survival in anti,U3 RNP autoantibody,positive patients with systemic sclerosis (SSc). Methods Medical records of 108 anti,U3 RNP,positive and 2,471 anti,U3 RNP,negative SSc patients first evaluated during 1985,2003 were reviewed. Anti,U3 RNP antibody was detected by protein and RNA immunoprecipitation. Disease classification, demographic and clinical features, organ system involvement, and survival were compared between the 2 patient groups, by Student's t -test, chi-square analysis, and Mantel-Haenszel test. Results The anti,U3 RNP,positive group had a higher proportion of African American patients (27% versus 5%; P < 0.001) and male patients (29% versus 19%; P = 0.021), and was younger at the time of first physician diagnosis (mean age 42.8 years versus 47.4 years; P = 0.001). The 2 groups had similar proportions of patients with diffuse cutaneous involvement (47% and 45% in those with and those without anti,U3 RNP, respectively). However, among patients with diffuse cutaneous involvement, the mean maximum modified Rodnan skin score was significantly lower in the anti,U3 RNP group (22.3 versus 27.9; P < 0.001). Skeletal muscle involvement was more frequent in anti,U3 RNP,positive patients (25% versus 14%; P = 0.002), as was "intrinsic" pulmonary arterial hypertension (PAH) (31% versus 13%; P < 0.001). The frequency of gastrointestinal involvement, cardiac involvement, pulmonary fibrosis, and "renal crisis" did not differ significantly between the 2 groups. Survival was worse in the anti,U3 RNP,positive group (hazard ratio 1.38 [95% confidence interval 1.05,1.82]). PAH was the most common known cause of death in patients with anti,U3 RNP (30%, versus 10% in the anti,U3 RNP,negative group; P < 0.001). Conclusion The present findings demonstrate that the frequencies of African American race and male sex are greater among SSc patients with anti,U3 RNP antibody than those without, and the former group is younger at SSc diagnosis. Anti,U3 RNP,positive patients have more frequent skeletal muscle involvement and PAH, the latter being the most common cause of death. [source] Systemic pyoderma gangrenosum responding to infliximab and adalimumabBRITISH JOURNAL OF DERMATOLOGY, Issue 5 2005V.G. Hubbard Summary Pyoderma gangrenosum (PG) is frequently associated with constitutional symptoms as part of a nonspecific inflammatory response. However, extracutaneous discrete aseptic neutrophilic infiltrates are extremely rare. We report a patient with idiopathic PG with splenic and psoas muscle involvement. His disease was extremely aggressive and was unresponsive to conventional immunosuppressive therapy. His cutaneous and extracutaneous PG cleared with infliximab and adalimumab. [source] Pulmonary function tests and diaphragmatic compound muscle action potential in patients with sporadic amyotrophic lateral sclerosisACTA NEUROLOGICA SCANDINAVICA, Issue 6 2010T. N. Sathyaprabha Sathyaprabha TN, Pradhan C, Nalini A, Thennarasu K, Raju TR. Pulmonary function tests and diaphragmatic compound muscle action potential in patients with sporadic amyotrophic lateral sclerosis. Acta Neurol Scand: 2010: 121: 400,405. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Background,,, Respiratory failure is the primary cause of death in patients with amyotrophic lateral sclerosis (ALS). Diaphragmatic compound muscle action potentials (DCMAP) are valid parameters to assess the respiratory muscle innervation. Aim,,, In this study we propose to establish evidence of pulmonary dysfunction in patients with ALS and its relation to DCMAP parameters among patients with sporadic ALS. Materials and methods,,, Twenty nine patients (M-20, F-9) diagnosed to have sporadic ALS by El. Escorial criteria, without symptoms of pulmonary dysfunction, and able to perform the PFT satisfactorily, were studied. Thirty controls (M-20, F-10) were selected from patient's relatives. Forced vital capacity (FVC), forced expiratory volume in one second (FEV1), peak expiratory flow rate (PEFR) and maximum voluntary ventilation (MVV) were measured by spirometry. Maximum expiratory pressure (MEP) was measured by digital peak pressure monitor. Right phrenic nerve conductions (DCMAP) were performed and the latencies and amplitude of diaphragmatic com-pound action potential (DCMAP) was recorded in controls and ALS patients. Results,,, The mean age of patients was 51.41 ± 10.72 years (37,82) and control was 53.57 ± 8.85 years (30,68). None of the patients had symptoms or clinical evidence of respiratory dysfunction. The FVC, FEV1, PEFR, MVV, MIP and MEP were significantly (P < 0.001) reduced in ALS. The mean DCMAP amplitude was reduced among patients (610 ± 506.231 ,v) as compared to controls (1303.33 ± 584.56, P < 0.001) and mean latency was increased in patients (9.73 ± 2.57 ms) compared to controls (7.69 ± 0.87, P = 0.001). There was significant negative correlation between PFTs and latencies of DCMAP. Amplitude of DCMAP did not correlate with PFTs. Conclusion,,, There is significant negative correlation between DCMAP latencies and PFTs suggesting early loss of myelinated fibres and diaphragmatic dysfunction. DCMAP latencies may be a good indicator of early respiratory muscle involvement and also of disease progression in ALS. [source] Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging studyACTA NEUROLOGICA SCANDINAVICA, Issue 2 2009K. Kesper Objectives and methods,,, Mutations in the gene encoding dysferlin cause limb girdle muscular dystrophy type 2B (LGMD2B), distal Miyoshi myopathy (MM), and a rare form of distal anterior compartment myopathy. To study the correlations between clinical manifestations and muscle imaging changes we conducted a 3.0-T magnetic resonance imaging (MRI) study in six German patients with primary dysferlinopathies defined by absence of dysferlin expression in muscle (MM, n = 3; LGMD2B, n = 2; hyperCKemia without clinical symptoms, n = 1). Results,,, Patients with manifest myopathy had widespread muscular pathology. In analogy to previous imaging studies, we confirmed an involvement of the anterior and posterior thigh compartments and a predominant involvement of posterior lower legs. However, our whole-body MRI study further provided evidence of signal alterations in the glutei, erector spinae and shoulder girdle muscles. Correlation of clinical findings with imaging demonstrated the potential of MRI to detect subclinical muscle pathology. Conclusions,,, Whole-body 3.0-T MRI is a non-invasive method to demonstrate various degrees of skeletal muscle alterations and disease progression in muscular dystrophies. Furthermore, whole-body high-field MRI may serve as a helpful diagnostic tool in differentiating primary dysferlinopathies from other forms of LGMD and distal myopathies. [source] Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophyACTA NEUROLOGICA SCANDINAVICA, Issue 2 2004I. Mahjneh Objectives , This is a report on a retrospective muscle magnetic resonance imaging (MRI) study on 11 patients affected by Welander distal myopathy (WDM) and 22 patients with tibial muscular dystrophy (TMD) carried out in order to define the pattern and characteristics of muscle involvement. Results , WDM patients showed involvement of gastrocnemius, soleus, tibial anterior (TA) and extensor digitorum longus (EDL), as well as hamstrings and hip adductor muscles. TMD patients showed involvement of the TA and EDL muscles, and in some patients also hamstring and posterior compartment muscles of the legs. Some patients showed asymmetry of muscle involvement. Conclusion , We conclude that muscle MRI examination proved to be very useful in the determination of the exact pattern of muscle involvement in WDM and TMD. Clinical testing using the Medical Research Council scale is not sensitive enough to establish the pattern of muscle involvement in focal muscle diseases. [source] Isolated extraocular muscle involvement as the ophthalmic manifestation of leukaemia: an alternative explanationCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 6 2010Ali Aydin MD FEBO No abstract is available for this article. [source] Isolated extraocular muscle involvement as the ophthalmic manifestation of leukaemiaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 6 2009Hayyam Kiratli MD Abstract Background:, Clinical and imaging features of patients with orbital leukaemia primarily involving extraocular muscles were evaluated. Methods:, This retrospective case series includes patients with leukaemia whose only ophthalmic manifestation was extraocular muscle enlargement. Demographic data, clinical information on the systemic disease, prominent ocular signs and symptoms, computed tomography and magnetic resonance imaging characteristics, treatments applied and the outcomes were collected. Results:, Five patients were diagnosed as leukaemic infiltration of extraocular muscle between 1995 and 2008. The age at presentation ranged between 3 and 61 years. Acute myeloid leukaemia was the diagnosis in two patients, and chronic lymphocytic leukaemia, chronic myeloid leukaemia and biphenotypic acute leukaemia were found in one patient each, respectively. One patient had bilateral involvement. The lateral rectus muscle was affected in four patients and the superior rectus muscle in one case. Restricted ocular motility was the most common finding. In one patient who had no prior history of leukaemia, an incisional biopsy established the diagnosis. All patients received multi-agent chemotherapy. Four patients expired after a rapid decline of the systemic status within a mean period of 7 months. Conclusions:, Leukaemic infiltration of extraocular muscles is a rare and late manifestation of the advanced disease associated with relapse and there seems to be a predilection for the lateral rectus muscle. Systemic prognosis remains dismal despite intensive chemotherapy. [source] Trapezius aplasia: Indications for a dual developmental origin of the trapezius muscleCLINICAL ANATOMY, Issue 6 2006Linda S. Nooij Abstract Aplasia of the trapezius muscle is a rarely encountered, mostly asymptomatic anomaly. We report a case of isolated unilateral complete trapezius aplasia that was noticed during a dissection course. Apart from isolated cases, trapezius aplasia may occur in different combinations with other muscle aplasias. We suggest that the patterns of concomitant muscle involvement are indicative of a combined occipital and cervical somitogenic origin. Clin. Anat. 19:547,549, 2006. © 2006 Wiley-Liss, Inc. [source] Pure quadriceps myopathy in two sistersEUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2003I. Mahjneh The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18,21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up study, the patients showed only vasti muscles involvement, normal creatine kinase (CK) levels, myopathic muscle biopsy and electromyography (EMG) and normal membrane protein expression on immunocytochemical analysis. Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance. [source] | ||||||||||||||||||||||