Frequent zebra bodies were present. Because of the large number of zebra bodies seen, the name "zebra body myopathy" is provisionally proposed. [ncbi.nlm.nih.gov]

The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation [emedicine.medscape.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]

• Asymptomatic

  Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. [mendelian.co]

  Even if asymptomatic, most patients will show restricted respiratory capacity on testing. [neupsykey.com]

  Of note, most carriers are asymptomatic, but mild facial and limb weakness may be present. Progression may result in gait difficulty and kyphoscoliosis. [emedicine.medscape.com]

  001256850.1: exon 285 NM_133378.4: exon 284 NM_001267550.2: exon 335 * Rare individuals have been reported to be homozygous for the TTN pathogenic variant p.Pro30091Leu; such individuals have been born to parents who are both heterozygous and clinically asymptomatic [findzebra.com]

  Totally asymptomatic father showed same ACTA1 c.529A>G (p.Ile177Val) variant with no sign of mosaicism from Sanger sequencing - ACTA1 1 1 Kristen Nowak 00108193 02178 - - M no France - - - - - MYOP idiopathic hyperCKemia (CK 2500-4000) ACTA1 ACTA1 1 1 [databases.lovd.nl]

• Inflammation

  The inflammation for JPM primarily occurs in the muscles, while in JDM the inflammation is in the blood vessels that lie under the skin and in the muscle tissue. This inflammation causes weak muscles and – in the case of JDM – skin rashes. [understandingmyositis.org]

  Causes of muscle disorders include Injury or overuse, such as sprains or strains, cramps or tendinitis A genetic disorder, such as muscular dystrophy Some cancers Inflammation, such as myositis Diseases of nerves that affect muscles Infections Certain [coding-pro.com]

  Enjoying life Factors Fiber foods Fibromyalgia Flower vases Gluten free diet Gluten free diet plan High fiber foods Home remedies Immune system Invisible illness Iron deficiency anemia Jar Blood Test Autoimmune Disease Myasthenia Gravis Rare Disease Reduce Inflammation [pinterest.cl]

  This is likely due to the effect of HIV itself and inflammation involving the GI lymphatic tissue. [morningreporttgh.blogspot.com]

• Respiratory Insufficiency

  Abstract A 44-year-old man presenting with dyspnoic attacks was found to be affected with congenital myopathy, rigid spine, restrictive respiratory insufficiency and cardiomyopathy. [link.springer.com]

  Marked hypotonia and respiratory insufficiency was noted after birth, requiring intubation and ventilation in both. Patients had myopathic faces, generalized hypotonia and severe weakness with minimal limb movements. [hub.hku.hk]

  Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression. [emedicine.medscape.com]

  Rapidly fatal and affecting only newborn boys, X-linked myotubular myopathy (XLMTM) presents during pregnancy with polyhydramnios and decreased fetal movements, followed postpartum by hypotonia and respiratory insufficiency. [ahcmedia.com]

• Vomiting

  […] including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting [clinicaltrials.gov]

  Lymphoma, nausea, vomiting, hepatotoxicity, leukopenia, oral ulcers, thrombocytopenia Screen patients for thiopurine methyltransferase deficiency before therapy (0.3 to 11 percent of white population). [aafp.org]

  Possible findings ipsilateral to lesion: Pain, numbness of half of face (V1-V3)- 5th nerve nucleus Ataxia, falling towards side of lesion- spinocerebellar tract, cerebellar peduncle Nystagmus, diplopia, vertigo, nausea and vomiting- ipsilateral vestibular [morningreporttgh.blogspot.com]

• Nausea

  Lymphoma, nausea, vomiting, hepatotoxicity, leukopenia, oral ulcers, thrombocytopenia Screen patients for thiopurine methyltransferase deficiency before therapy (0.3 to 11 percent of white population). [aafp.org]

  […] of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea [clinicaltrials.gov]

  Possible findings ipsilateral to lesion: Pain, numbness of half of face (V1-V3)- 5th nerve nucleus Ataxia, falling towards side of lesion- spinocerebellar tract, cerebellar peduncle Nystagmus, diplopia, vertigo, nausea and vomiting- ipsilateral vestibular [morningreporttgh.blogspot.com]

• Heart Disease

  Heart Disease Autoimmune Disease Addison's Disease Symptoms Chronic Kidney Disease Mayoclinic Org Anxiety Disorder Treatment Blood Test Risk Factor Forward Chronic kidney disease Definition - Diseases and Conditions - Mayo Clinic Pinterest Search Explore [pinterest.cl]

  Centrilobular necrosis of liver in —Congestive heart failure. 14. Nut meg liver in —Congestive heart failure 15. Cardiac sclerosis of liver in — Congestive heart failure. 16. [mypgnotes.com]

• Thin Skin

  While Ehlers-Danlos is known to be a syndrome that affects the connective tissue of the body, and to trigger symptoms such as hypermobility of the joints, susceptibility to bruising due to thin skin, and low muscle tone, these symptoms present differently [fdna.health]

• Myopathy

  (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy (including Malignant [who.int]

  Our patient and an other patient reported in the literature establish zebra body myopathy as an ultrastructurally distinct benign congenital myopathy. [ncbi.nlm.nih.gov]

  MalaCards based summary: Zebra Body Myopathy is related to myopathy and nemaline myopathy 3. An important gene associated with Zebra Body Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle). [malacards.org]

  Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy [mdi.ie]

  We describe an unusual case of myopathy with zebra bodies and rods that manifested in a 73-year old woman. Zebra body myopathy is a rare benign congenital myopathy that has been associated with mutations in the ACTA1 gene. [nmd-journal.com]

• Myalgia

  […] with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis [who.int]

  Myalgia inclusion criteria 17 No for Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia inclusion criteria 17 Not sure for Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia inclusion criteria 17 with [centerwatch.com]

  DISTAL ANOCTAMINOPATHY Is also known as miyoshi muscular dystrophy type 3|mmd3|miyoshi myopathy 3 Related symptoms: Muscle weakness Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia SOURCES: OMIM ORPHANET MENDELIAN More info [mendelian.co]

  Eosinophilia myalgia syndrome (L-tryptophan myopathy) Diagnosis: The diagnosis of most myopathies involves a combination of laboratory studies and nerve conduction studies with specific testing of the muscles. [hickoryneurology.net]

• Hip Dislocation

  Nocturnal hypoventilation Difficulty running Restrictive ventilatory defect Hip dislocation Macroglossia Knee flexion contracture Ankle contracture Myositis Progressive Unsteady gait Growth delay Intellectual disability Myalgia Strabismus Trophic changes [mendelian.co]

  Hip dislocation at birth is particularly suggestive of RYR1-related central core disease but is also frequently seen in Ullrich CMD. [cyberleninka.org]

  Orthopaedic complications are common and include congenital dislocation of the hips and scoliosis. [musculoskeletalkey.com]

• 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.com]

  […] weakness Peripheral axonal neuropathy EMG: neuropathic changes Sensory axonal neuropathy Impaired vibratory sensation Pyloric stenosis Ragged-red muscle fibers Sensorimotor neuropathy Sensory impairment Distal sensory impairment Minicore myopathy If [mendelian.co]

  […] type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy, Jerash type Distal myopathy Distal myopathy with anterior tibial onset Distal myopathy [se-atlas.de]

• Radiculopathy

  Radiculopathy/neuropathy 3. Myasthenic syndrome 4. Distal axon (twig) disease 5. Inflammatory myopathies (polymyositis, dermatomyositis) 6. Embolic Toxic myopathies 1. Alcohol 2. Iron 3. Chloroquine 4. Clofibrate 5. Glycoprotein 6. EACA 7. [hickoryneurology.net]

  Neurological Disorders Amyotrophic Lateral Sclerosis (ALS);Myasthenia Gravis;Myopathies;Stroke;Parkinson's Disease United States 2014-04-08 Recruiting Innovative Ultrasound Technology in Neuromuscular Disease Amyotrophic Lateral Sclerosis;Muscular Dystrophy;Radiculopathy [rctportal.niph.go.jp]

  Nerve root: Radiculopathy, usu at 1 level, often painful. Unilateral if physical compression If demyelinating (e.g. Guillain-Barre), bilateral leg weakness with areflexia Peripheral nerve: Sensory findings associated, in dermatomal distribution. [morningreporttgh.blogspot.com]

• Polyneuropathy

  […] atrophy of childhood CANOMAD syndrome CLIPPERS Cap myopathy Cardiodysrhythmic potassium-sensitive periodic paralysis Centronuclear myopathy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Chronic inflammatory demyelinating polyneuropathy [se-atlas.de]

  Amyotrophic Lateral Sclerosis (ALS);Myasthenia Gravis;Myopathies;Stroke;Parkinson's Disease United States 2014-04-08 Recruiting Innovative Ultrasound Technology in Neuromuscular Disease Amyotrophic Lateral Sclerosis;Muscular Dystrophy;Radiculopathy;Myopathy;Polyneuropathy [rctportal.niph.go.jp]

  […] neuropathy Abnormal palate morphology Abducens palsy Torticollis Foot dorsiflexor weakness Multiple joint contractures Tetraparesis Lissencephaly Adducted thumb Bilateral sensorineural hearing impairment Urinary incontinence Paralysis Generalized amyotrophy Polyneuropathy [mendelian.co]

• Hyperactivity

  […] seizures Truncal ataxia Congenital cataract Amblyopia CNS hypomyelination Adrenal insufficiency Impulsivity Progressive proximal muscle weakness Esophagitis Achalasia Speech apraxia Alacrima Asymmetric growth Abnormality of the liver Attention deficit hyperactivity [mendelian.co]

• Neglect

  May see associated cortical findings (e.g. aphasia, apraxia, neglect, field defect). Usually unilateral Internal capsule: Usually pure motor, with arm, leg, and possibly facial involvement. Unilateral. No cortical findings. [morningreporttgh.blogspot.com]

The majority of these patients have an identifyable enteric pathogen if extensive enough workup is done. There is a small subset of HIV patients with "HIV enteropathy", in whom there is no identifyable pathogen. [morningreporttgh.blogspot.com]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

Treatment with long-chain fatty-acid-free diet resulted in remarkable clinical improvement and in decrease of lipid droplets in the muscle. [scholars.northwestern.edu]

Orthopedic treatments. Orthopedic support devices or other treatments, such as surgery to correct or improve scoliosis or contractures, may be helpful. Physical, occupational or speech therapy. [middlesexhealth.org]

The earlier the therapy with corticosteroids, the better is the overall prognosis. Our patient responded to steroids therapy (prednisolone 60 mg once daily). [casereports.in]

Variable expressivity (ranging from mild to severe) even amongst affected members of the same family for certain autosomal dominant congenital myopathies such as RYR1 gene-associated central core disease can make counseling, especially about the prognosis [iamg.in]

Intranuclear rods are generally considered to be associated with more severe muscle involvement and a worse prognosis. Rarely, a combination of rods and cores (described below) are noted, and are described as core-rod myopathy. [neupsykey.com]

This subgroup of patients has a better prognosis than adult patients. [aafp.org]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

In general, use of TEM is indicated whenever the etiology of a suspected infectious disease is unknown. [va.gov]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.de]

The Idiopathic Inflammatory Myopathies (IIM) are a heterogeneous group of muscle diseases of unknown etiology characterized by inflammation of the muscles used for movement; the skeletal muscles. Myopathy is a term used to describe muscle disease. [understandingmyositis.org]

Our approach is readily adaptable by other research groups, and is expected to accelerate biomedical research in domains related to the pathophysiology of retinal dopaminergic amacrine cells. [pubs.rsc.org]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.de]

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain 2015; 138: 246-268. 9. Ravenscroft G, et al. Recent advances in understanding congenital myopathies. F1000Res 2018; 7. 10. [iamg.in]

It gives insight into pathophysiologic mechanisms and can guide molecular genetic testing. [ijpmonline.org]

Thermolability selectively found in myoblasts and not in erythrocytes of the patients plays a crucial role in the pathophysiology of this disease. [journals.plos.org]

Not only did this mean the aggregates were not removed but the other pathways were prevented from taking over. [medicalxpress.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]

Complications Congenital myopathies are associated with a number of complications, such as: Delays in motor skills Scoliosis Pneumonia Respiratory failure Feeding problems Prevention There's no way to prevent congenital myopathies. [middlesexhealth.org]