Symptoma

X-Linked Reducing-Body Myopathy 1A

X-Linked Childhood-Onset Reducing-Body Myopathy

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.de]

Acronym RBMX1A Synonyms Myopathy, reducing body, X-linked, early-onset, severe Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Histologically, reducing bodies contain a substance that can reduce dihydroxydinaphthyl disulfide, confirming that sulfhydryl groups are present. [medlink.com]

Within families, there can be considerable variation with respect to disease presentation and degree of muscle involvement. The serum creatine kinase (CK) levels are either normal or usually mildly elevated. [neurology.mhmedical.com]

Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present. [emedicine.medscape.com]

  • Weakness

    Definition A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence [uniprot.org]

    […] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

    Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. [abcam.com]

    The male index patient was the most affected member presenting with rigid spine, followed by rapidly progressive muscle weakness. He died from the consequences of respiratory insufficiency at the age of 29.5 years. [thieme-connect.com]

    They may have greater atrophy and distal leg weakness with relatively less hand weakness. Nerve hypertrophy is absent but is variable in CMT1 as well. [emedicine.medscape.com]

  • Physician

    Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents. [books.google.de]

    This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

    The clinical diagnosis of IEM may be easily reached by physicians familiar with those disorders, although a biochemical confirmation is required to establish a sound diagnosis, which in a number of those disorders may lead to successful therapy. [frontiersin.org]

    MR was the treating physician, who supervised the case and coedited the entire article. CM was the reporting neuropathologist and coedited the entire article. VK performed sequencing of the FHL1 gene. [docksci.com]

    Instead, we have organised the roughly 300 disorders with manifestations both in the skin and nervous system into clinically relevant groupings, as they may be first encountered by a practicing physician: neurocutaneous disorders associated with impaired [jnnp.bmj.com]

  • Death in Childhood

    Death in childhood is frequent in the severe form of the disease, due to respiratory failure. [uniprot.org]

    In the rare neurocutaneous melanosis syndrome malignant transformation of a hypermelanotic leptomeninges leads to death in childhood. 115 Summary As knowledge of pathophysiology grows, so does the refinement of diagnoses. [jnnp.bmj.com]

  • Swelling

    It is also characterised by painless swelling of the draining lymph node (bubo). Serological testing (Venereal Disease Research Laboratory test) may be negative during the early phase, but invariably becomes positive within 1 month of infection. [jnnp.bmj.com]

  • Episodic Weakness

    His daughter, aged 18 years, had numbness and tingling in the back of her legs during gym class and middle finger numbness when holding a pen or playing the flute, but she denied episodic weakness; symptom onset was at age 13 years. [emedicine.medscape.com]

  • Muscle Rigidity

    Malignant Hyperthermia Malignant hyperthermia is a severe reaction to anesthetic agents and depolarizing muscle-blocking agents that manifests as muscle rigidity, fever, muscle necrosis, myoglobinuria, metabolic acidosis, kidney failure, and cardiac arrhythmias [clevelandclinicmeded.com]

  • Vascular Disease

    Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases. [books.google.de]

  • Myopathy

    Acronym RBMX1A Synonyms Myopathy, reducing body, X-linked, early-onset, severe Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

    Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.de]

    […] reducing body myopathy. ( 14735304 ) Shinde A....Shibasaki H. 2004 15 Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. ( 11571700 ) Goebel H.H....Voit T. 2001 16 Adult onset reducing body myopathy. [malacards.org]

    AD) 5.2 CRYAB (11q22.3-q23.1) Crystallin, alpha B Myopathy myofibrillar - (AD) 5.3 Spheroid body myopathy - (AD) 5.4 Myofibrillar myopathy, ZASP related - (AD) 5.5 LIM domain binding 3 Myofibrillar myopathy, filamin-C related - (AD) 5.6 Filamin C, gamma [195.83.227.65]

    […] phenotype distinguishable from other myopathies. [abcam.com]

  • Muscle Weakness

    […] distal leg muscle weakness Hearing loss Retinal telangiectasias Mitochondrial myopathies 1 per 8000 population Exercise intolerance Proximal girdle muscle weakness Extraocular muscle weakness Peripheral neuropathy Migraine headaches Seizures Stroke Diabetes [clevelandclinicmeded.com]

    Onset during childhood or adulthood is characterised by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive disease course. [rarediseases.info.nih.gov]

    weakness, X-linked - (XR) 5.25 * episodic muscle weakness, x-linked - EMWX Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia - (AD) 5.26 VCP (9p13-p12) Valosin-containing protein Inclusion body myopathy with early-onset [195.83.227.65]

    People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. [diseaseinfosearch.org]

  • Muscular Atrophy

    atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Rare dystonia Rare neuroinflammatory or neuroimmunological disease Reducing body myopathy [se-atlas.de]

    Some of the more common PGD indications for IVF are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, and Sickle Cell Anemia. [geneticsandfertility.com]

    atrophy* Spondylothoracic dysostosis Steroid-resistant nephrotic syndrome Sulfate transporter-related osteochondrodysplasia Tay-Sachs disease (and other hexosaminidase A deficiencies)* TGM1-related autosomal recessive congenital ichthyosis TPP1-related [jewishgenetics.org]

    Dominant; SMALED 2 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 4 Spinal Muscular Atrophy, Type I 1 Spinal Muscular Atrophy, Type II 1 Spinal Muscular Atrophy, Type III 1 Spinal Muscular Atrophy, Type IV 1 Spinocerebellar Ataxia 21 1 Spinocerebellar [preventiongenetics.com]

  • Suggestibility

    Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.de]

    On this write-up I’ll define some easy to understand suggestions to remember in regards for the climate and fishing so that you might begin to utilise this data to the edge. [weathertomorrow.org]

    The initial neurological assessment suggested mildly expressed Emery Dreifuss muscular dystrophy (EDMD). [escardio.org]

    […] genetic link in sudden infant death syndrome Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting [news-medical.net]

    X-linked dominant, semi-dominant and recessive inheritance have been suggested and skewed X-inactivation has not been excluded. [rarediseases.info.nih.gov]

  • Short Neck

    UA obstruction is common in all forms of MPS due to adenotonsillar enlargement, large and protruded tongue, reduced retropalatal and retroglossal space, narrow trachea and nasal airway, short neck and small thoracic cage. [frontiersin.org]

  • Facial Pain

    This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.de]

  • Peripheral Neuropathy

    Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.de]

    Peripheral neuropathy occurs in about 10% of those with Sjögren’s syndrome. [jnnp.bmj.com]

    neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in 50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy CNS [clevelandclinicmeded.com]

    […] disease type C, severe perinatal form Non-dystrophic myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Opsoclonus-myoclonus syndrome Overlap myositis Paramyotonia congenita of Von Eulenburg Parasitic myositis Periodic paralysis Peripheral [se-atlas.de]

    Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. [ncbi.nlm.nih.gov]

  • Headache

    This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.de]

    Samani, Aarno Palotie, CARDIoGRAM Consortium and the International Headache Genetics Consortium posted to no-tag by Terkko on 2016-04-13 06:38:47 Abstract To apply genetic analysis of genome-wide association data to study the extent and nature of a shared [citeulike.org]

    […] scapular winging, and later distal leg muscle weakness Hearing loss Retinal telangiectasias Mitochondrial myopathies 1 per 8000 population Exercise intolerance Proximal girdle muscle weakness Extraocular muscle weakness Peripheral neuropathy Migraine headaches [clevelandclinicmeded.com]

    Hypercapnia, somnolence, morning headaches, and attention deficits are seen in children with SMA I–II. [frontiersin.org]

  • Hyporeflexia

    On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms. [emedicine.medscape.com]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.de]

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]

Study opens new avenues for treatment of Laing distal myopathy New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. [news-medical.net]

Prognosis The prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease. Last updated: 4/28/2008 [rarediseases.info.nih.gov]

Prognosis The prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease. [orpha.net]

For the moment, the patient is undergoing frequent monitoring for arrhythmia and changes in ventricular function; growing knowledge on prognosis and outcome of such patients will determine the threshold for a more active treatment approach. [escardio.org]

A complete autoantibody profile and a muscle biopsy are mandatory to correctly diagnose different clinical entities and to define their different prognosis. Bohan and Peter’s criteria included five items to diagnose adult onset PM and DM. [medworm.com]

In cases suspected to be a primary inflammatory myopathy, specific autoantibodies can be considered to determine the prognosis and rule out associated conditions. [clevelandclinicmeded.com]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

The etiology of this condition remains unclear. Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]. [abcam.com]

Etiology Both sporadic and familial cases of RBM are caused by mutations in the gene encoding the four-and-a-half LIM domain 1 protein ( FHL1 ; Xq27.2). [rarediseases.info.nih.gov]

Nishino Source Type: research A case of chronic sarcoid myopathy with IBM like distal muscle involvement Sarcoidosis is a multisystemic inflammatory granulomatous disease of unknown etiology that involves nearly any organ system, including muscle. [medworm.com]

Epidemiology The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far. [rarediseases.info.nih.gov]

Summary Epidemiology The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far. [orpha.net]

Wright, ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Ole A. Andreassen, Philip Asherson, Christie L. Burton, Dorret I. [citeulike.org]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.com]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol (2004) 37 :217–29. doi:10.1002/ppul.10438 Pubmed Abstract Pubmed Full Text CrossRef Full Text 67. [frontiersin.org]

Research is increasingly showing that these two conditions also share several pathophysiological mechanisms, including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of [books.google.de]

This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. [ncbi.nlm.nih.gov]

Although the pathophysiology remains poorly understood, inclusions may be involved in processing and assembling ribosomes. [medlink.com]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

In patients with an underlying metabolic myopathy, education about following a more moderate exercise program and avoiding intense exercise and fasting is necessary in preventing recurrent episodes. [clevelandclinicmeded.com]

Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006; 354(2):209-210. (13) Becane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH et al. [escardio.org]

Degradation: following retrotranslocation, misfolded proteins are ushered to the 26S proteasome and must be kept soluble to prevent aggregation. [physrev.physiology.org]

Abatacept is a fusion protein that prevents antigen-presenting cells from delivering the co-stimulatory signal to T cells to fully activate them. We asked if Abatacept might change the course in sIBM patients. [medworm.com]

This raises the possibility that OPMD nuclear inclusions are ‘mRNA traps’, which prevent the transfer of some key mRNA species to the cytoplasm. [hmg.oxfordjournals.org]