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]

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]

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]

• Episodic Weakness

  Jacob et al in 1961 described in 7 patients of 2 unrelated families 14 similar episodes of recurrent brachial neuritis with incapacitating pain, weakness, wasting, depression of reflexes, and sensory loss. [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

  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]

• 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]

• 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]

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]

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]

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]

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]

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). [orpha.net]

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]

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]

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]

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]