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

In the past, GSDs were also named by the discovering physician, as indicated in Table 1. [knowledge.statpearls.com]

Author Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia Disclosure: Nothing to disclose. [emedicine.medscape.com]

However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing. [mayomedicallaboratories.com]

The ancient Indtan physicians were aware of diseases with proximal muscle weakness in spite of muscle enlargement, the finding that is commonly seen in various metabolic myopcithies and muscular dystrophies. [annalsofneurosciences.org]

Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016. [books.google.com]

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]

or pipestem capillaries that would suggest dermatomyositis (DM) or another type of humorally mediated microangiopathy. [sites.google.com]

 Recent work on myoclonus epilepsy with Lafora bodies ( Lafora disease) suggests that this is a glycogenosis, probably due to abnormal glycogen synthesis.  GSD II can be treated by enzyme replacement therapy, but there is no specific treatment for [slideshare.net]

LUBAC has a MW of approximately 600 kDa suggesting a heteromultimeric assembly of its subunits. Interacts with beta-I-type (PRKCB1) and zeta-type protein kinase C (PRKCZ) and with UBE2L3. Interacts with PRKCH. [uniprot.org]

Blueprint Genetics’ Plus Analysis (Seq Del/Dup) maximizes the chance to find a molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be a cost-effective first line test if your patient’s phenotype is suggestive [blueprintgenetics.com]

Once exome sequencing becomes routine – say 5 years from now – a health care professional evaluating an adult with distal limb weakness, profound fatigue, and urinary urgency can pop a blood sample into a device that will quickly detect, or rule out, [blogs.plos.org]

weakness such as foot drop can be through the use of Ankle Foot Orthoses (AFOs) which can be designed or selected by an Orthotist based upon clinical need of the individual. [en.wikipedia.org]

Limb weakness is usually affecting proximal, muscles more than distal musculature. Both upper and lower extremities are involved, although the legs are usually affected more severely. Deep tendon reflexes are absent or depressed. [neuroweb.us]

Proximal limb weakness is common to all patients and is often progressive; facial and respiratory muscle weakness may occur. Muscle cramps and exercise intolerance have been described but are not particularly major features of this disorder. [annalsofneurosciences.org]

The most common cause of premature death in oculopharyngeal muscular dystrophy (OPMD) is complications related to lack of treatment of dysphagia Mild neck and proximal limb weakness is seen. No myotonia. No abnormal reflexes. [sites.google.com]