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X-Linked Scapuloperoneal Myopathy

SPM


Presentation

  • Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.[books.google.com]
  • Peer-reviewed papers should present previously unpublished, original results that are not simultaneously submitted elsewhere. All submission will be rigorously peer-reviewed by members of the international program committee.[s3pm.icsi.berkeley.edu]
  • However, it is not clear as what are the CT and MRI findings for lower limb muscles are present in facioscapuloperoneal muscular dystrophy (FSPMD) patients.[omicsonline.org]
  • Acronym SPM Synonyms Scapuloperoneal myopathy FHL1-related Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Parameter Averaging (BPA) Parametric Empirical Bayes (PEB) Misc How-tos Atlases Datasets BIDS Working with 4D data Programming intro Writing batch scripts No Display Mode Learning SPM : Courses, books and websites Other tools Cogent a MATLAB-based stimulus presentation[en.wikibooks.org]
Physician
  • Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.[books.google.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • In the ER, Sarah was able to describe her symptoms to a physician. The physician made note of what Sarah had eaten during the last 24 hours and was especially interested in the fact that Sarah's grandmother canned all of her own vegetables.[quizlet.com]
Anorexia
  • Category: License: Development Status: Diagnosis: Amyotrophic Lateral Sclerosis , Anorexia Nervosa , Aphasia , Apraxias , Asperger Syndrome , Ataxia , Attention Deficit Disorder with Hyperactivity , Autistic Disorder , Bipolar Disorder , Brain Concussion[nitrc.org]
Choking
  • SPM Choke Valves SPM choke valves come in adjustable and positive models that restrict flow in high pressure applications including flow through manifolds.[global.weir]
Winged Scapula
  • Editorials Published: 4 / 4 Rapidly Reversible Winging Scapula. Fernandez-Torron R, Lopez de Munain A, Camano P, Garcia-Bragado F. Arthritis Rheumatol. 2015; 67: 2502-0. FI: 7.764 (Q3).[biodonostia.org]
  • Scapulopexy of winged scapula secondary to facioscapulohumeral muscular dystrophy. Clin Orthop Relat Res. 2006;(449):288–94. [ PubMed : 16672903 ] Goto K, Nishino I, Hayashi YK. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.[ncbi.nlm.nih.gov]
  • . **60% of female carriers have elevated CPK Facioscapulohumeral Dystrophy: Presentation: -weakness of face, scapular muscles --------frequent winged scapula, (true)hypertrophic deltoids --------Sensorineural hearing loss (especially with younger age[quizlet.com]
  • Additionally, patients may have the triple-hump sign, composed of the deltoid muscle, the bones of the shoulder, and the high-riding, winged scapula. These findings are depicted in the figures.[sites.google.com]
Lower Limb Muscle Weakness
  • limb muscle weakness ; Myofibrillar myopathy ; Myopathy ; Proximal muscle weakness ; Scapular winging ; Scapuloperoneal myopathy ; Skeletal muscle atrophy ; Steppage gait ; Waddling gait ; X-linked dominant inheritance Associated Genes FHL1 (Withdrawn[mousephenotype.org]
  • limb muscle weakness and atrophy.[mendelian.co]
  • [HPO:curators] Show HP:0003704 Scapuloperoneal weakness Show HP:0003715 Muscle biopsy shows myofibrillar myopathy Show HP:0003805 Rimmed vacuoles Show HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs."[manteia.igbmc.fr]
Upper Limb Weakness
  • limb weakness and spasticity due to Arnold Chiari malformation and in older children syringomyelia may produce upper limb dysfunction A child that has scoliosis or deformity (eg develops hamstring spasticity) of rapidly increasing severity is neurologically[flinders.edu.au]
Dyslexia
  • Deficit Disorder with Hyperactivity , Autistic Disorder , Bipolar Disorder , Brain Concussion , Brain Injuries , Child Development Disorders, Pervasive , Crohn Disease , Alzheimer Disease , Creutzfeldt-Jakob Syndrome , Depression , Diabetes Mellitus , Dyslexia[nitrc.org]
Compulsive Disorder
  • Disorder , Parkinson Disease , Schizophrenia , Stroke , Cocaine-Related Disorders , Tobacco Use Disorder , Tourette Syndrome Domain: Environment: Intended Audience: Natural Language: Operating System: Programming Language: Supported Data Format: is part[nitrc.org]
Distractibility
  • Ease of Operation Minimizes Distraction from Observation to Analysis A guidance function to guide users through procedures, a navigation function that eliminates uncertainty about the observation position, and other features help ensure observations can[shimadzu.com]
Hyporeflexia
  • Scapuloperoneal Myopathy, X-Linked Dominant Synonyms SCAPULOPERONEAL MYOPATHY, FHL1-RELATED Classification genetic, neurological Phenotypes Adult onset ; Arrhythmia ; Elevated serum creatine phosphokinase ; Flexion contracture ; Foot dorsiflexor weakness ; Hyporeflexia[mousephenotype.org]
  • [HPO:probinson] Show HP:0001169 Broad hands Show HP:0001265 Hyporeflexia Show HP:0001284 Areflexia Show HP:0001371 Contractures Show HP:0001374 Congenital hip dislocation Show HP:0001417 X-linked inheritance "A mode of inheritance that is observed for[manteia.igbmc.fr]
  • […] amyotrophy Proximal muscle weakness Muscular dystrophy Rimmed vacuoles Gait disturbance Difficulty walking Peripheral neuropathy Skeletal muscle atrophy Difficulty running Lower limb muscle weakness Rare Symptoms - Less than 30% cases Pes cavus Waddling gait Hyporeflexia[mendelian.co]
  • The clinical presentation is that of progressive/relapsing and remitting muscle weakness present for more than 2 months, symmetrical proximal and distal extremity weakness and hyporeflexia.[neuroweb.us]
  • Physical examination shows pseudohyper-trophy of the calf muscles ( Fig. 572-1 ) and, in some instances, of quadriceps, gluteal, deltoid, and other muscles, and lumbar lordosis, waddling gait, shortening of the Achilles tendons, and hyporeflexia or areflexia[obgynkey.com]
Apraxia
  • Category: License: Development Status: Diagnosis: Amyotrophic Lateral Sclerosis , Anorexia Nervosa , Aphasia , Apraxias , Asperger Syndrome , Ataxia , Attention Deficit Disorder with Hyperactivity , Autistic Disorder , Bipolar Disorder , Brain Concussion[nitrc.org]

Workup

  • As genetic testing has become more readily available in the clinic, genetic testing for DMD has become a standard part of the workup for most cases.[neupsykey.com]
  • Diagnostic workup should include routine CBC, urinalysis, and chemistry panel; a thyroid profile to exclude hypothyroidism; EMG; and muscle biopsy. The CPK is elevated in most cases.[quizlet.com]
  • Clinically, a male infertility workup should begin with a thorough history and physical examination and at least 2 semen analyses ( 4 ).[clinchem.aaccjnls.org]
  • Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped[sites.google.com]
Hypercapnia
  • In addition, we have developed a method to estimate cerebral metabolic rate of oxygen (CMRO2) without hypercapnia by using simultaneous measurements of NIRS and fMRI (Tak et al., 2010).[bispl.weebly.com]

Treatment

  • The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • There is no standard course of treatment for scapuloperoneal myopathy.[rarediseases.info.nih.gov]

Prognosis

  • A regulated and monitored exercise regimen, along with physiotherapy is known to provide further relief to Scapuloperoneal Myopathy patients as well The prognosis depends on the severity of the symptoms.[dovemed.com]
  • Individuals may have only a few neurofibromas or cafe au lait spots or the process may involve almost every system with hideous skeletal deformity Malignant change occurs in around 5 - 10% of lesions poor prognosis Tumours other than those of neural[flinders.edu.au]
  • .• 10 times less frequent than DMD• Better prognosis. Patient lives upto 40-50 years.• Mental retardation and heart failure can occur• Muscle biopsy – variable muscle fiber size with aberrant large fibers.[de.slideshare.net]
  • […] x-ray and chest CT scan / MRI Others: PFT….. 94  Medical treatment  Plasmaphoresis  Immunoglobulins MANAGEMENT  Medical treatment Anticholinesterase Immunosupressant: Steroids Azathioprin  Plasmaphoresis  Immunoglobulins  Surgery: Thymectomy 95 Prognosis[slideplayer.com]

Etiology

  • Presentation on theme: "MUSCLES DISORDERS Definition:"— Presentation transcript: 1 MUSCLES DISORDERS Definition: Diseases involving the muscle fibers (myogenic) Unlike: neuronopathies: secondary to LMN Heterogenous etiology, genotype, phenotype… Devastating[slideplayer.com]
  • (Etiology) Scapuloperoneal Myopathy is mostly an inherited disorder affecting the muscles. The defective gene can be inherited in an autosomal dominant manner.[dovemed.com]
  • Etiological Classification of neuropathiesHereditary Neuropathies • Acquired metabolic and toxic – Hereditary motor and sensory neuropathies neuropathy – type I – Peripheral neuropathy in adult – HMSN – Type II onset Diabetes – Dejerine – Sottas Neuropathy[de.slideshare.net]
  • However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures.[dartmouth.edu]

Epidemiology

  • Genetic epidemiological studies and genotypes reported in Spanish patients are revised.[elsevier.es]
  • DISORDERS OF THE NEUROMUSCULAR JUNCTION AND MUSCLE NEUROMUSCULAR JUNCTION 1 MYASTHENIA GRAVIS 1.1 Epidemiology.[academic.sun.ac.za]
  • Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. Genet Test. 2005; 9 :30–6. [ PubMed : 15857184 ] Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B.[ncbi.nlm.nih.gov]
  • Type 2B limb girdle myopathy: Firstly described in Palestinian families (Mahjneh et al, 1992) Chromosome 2p linked (Bashir et al, 1994) Both MM and LGMD phenotype in the same family (Illiaroshkin et al ; Weiler et al, 1996) 65 66 Dysferlinopathies: Epidemiology[slideplayer.com]
  • Most of these lines of investigation have been based on epidemiological identification of specific risk factors.[dartmouth.edu]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of GBS• Pathological findings include inflammatory and demyelinating changes.• Monocytes and macrophages appear to attack myelin sheaths.• Myelinated fibers show segmental demyelination during the first few days.[de.slideshare.net]
  • Source: 27 X-linked: Dystrophinopathies Groupe of hereditary myopathies Pathophysiology: defective or absent Dystrophin Dystrophin: Has integral role in sarcolemmal stability Consist in 2 globular heads with flexible rod-shaped center Associated in a[slideplayer.com]
  • Underlying pathophysiology is related to a disorder of cell mediated immunity. Symptoms are prominent weakness of neck flexion and extension and of the shoulder and hip girdle.[academic.sun.ac.za]
  • RNA transcripts, miRNA-sized fragments, and proteins produced from d4z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.[ncbi.nlm.nih.gov]

Prevention

  • Spermine is also implicated in the regulation of gene expression, the stabilization of chromatin, and the prevention of endonuclease-mediated DNA fragmentation.[www4.rcsb.org]
  • Snow Grip tip, which is also known as a “screw” tip, available with a length of 34 cm, or in the short version, of 26 cm – Brush Grip tip, an innovative anchoring system (SPM patented), which consists of bristles that attach themselves to the snow and prevent[spm-sport.com]
  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.com]
  • Practical issues Up to July 2010 (SPM version 4010) in order to prevent function name clashes SPM called its FieldTrip functions via intermediate or ‘wrapper’ functions whose name always started with ‘ft_’.[fieldtriptoolbox.org]
  • The minimum description length (MDL) principle thereupon plays an important role in preventing over- or under- fitting and facilitates optimal model order selection for the global trend estimate. More details are described in Jang et al., 2009.[bispl.weebly.com]

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