He was awarded the 1st Distinguished Neurology Alumnus Award of the Neurological Institute; Columbia University Medical Center; 1994.He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present [books.google.com]

Patients usually present with severe neonatal hypotonia. When respiratory distress is present, death can occur in the first year of life. There is delay of motor milestones during childhood. [nature.com]

Rarely hypovitaminosis D may present with a myopathy. Similarly, patients with primary or secondary osteomalacia may present with proximal weakness. [clinicalgate.com]

Although the clinical presentation often is dominated by cardiac or renal failure, peripheral neuropathy may be a significant or the initial manifestation, resulting in presentation to the neurologist. [journals.lww.com]

• Episodic Weakness

  Episodic Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures [books.google.com]

• Foot Deformity

  Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case [books.google.com]

• Meningism

  Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. [books.google.com]

  Full text articles CASE REPORT Glioblastoma Multiforme Associated with Arteriovenous Malformation: A Case Report and Literature Review DOI :10.4103/aian.AIAN_219_18 [ABSTRACT] [PDF] Persistent craniopharyngeal canal: A rare cause for recurrent meningitis [annalsofian.org]

  Aseptic meningitis, myocardial infarction, and stroke can also complicate IVIG administration. Rituximab Rituximab is a human monoclonal antibody to CD20 that act through depletion of B cells in circulation. [journal.frontiersin.org]

• Dark Urine

  […] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark [books.google.com]

  In metabolic myopathies associated with rhabdomyolysis (defined as creatine kinase elevation 10 times the normal value), patients may report tea-colored or dark urine, especially after intense exercise. [clevelandclinicmeded.com]

After complete workup, its frequency fell to 14%. [nature.com]

• Slow Nerve Conduction Velocity

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

Initial treatment Approach in Adults Corticosteroids Corticosteroids (high-dose) is the first line of treatment for adult onset DM, PM, and NAM ( 51 ). [journal.frontiersin.org]

Standard Therapies Treatment The type of treatment available is driven by the type of amyloidosis and the clinical state of the patient. [rarediseases.org]

Without treatment, this can lead to organ failure. [nhs.uk]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

Tap into additional treatment information with more clinical vignettes that provide "real-life" illustrative case evaluations. [books.google.com]

Therapy that reduces the supply of the amyloid fibril precursor protein can markedly improve prognosis. [karger.com]

Ophthalmology 113: 1657-1664. [ Crossref ] Aryasit O, Preechawai P, Kayasut K (2013) Clinical presentation, treatment, and prognosis of periocular and orbital amyloidosis in a university-based referral center. [oatext.com]

Prognosis: Most patients can pursue normal daily activities and do not develop progressive problems. Precautions regarding diet and exercise are an important component of a successful outcome. BIBLIOGRAPHY Martin A, Haller RG, Barohn R. [rheumaknowledgy.com]

[…] swelling Cardiac Renal: Nephrotic syndrome Muscle enlargement ± weakness Gastrointestinal: Diarrhea Anemia associated with multiple myeloma Amyloidoma Laboratory CSF: Protein mildly elevated Electrodiagnostic: Axonal neuropathy Biopsy: Axonal loss; Amyloid Prognosis [sinoemedicalassociation.org]

Table 4 summarizes clinical presentation, laboratory investigations, therapies, and prognosis. Table 4. Idiopathic inflammatory myopathies (IIM), Summary. [journal.frontiersin.org]

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

The treatment entails preventing other complications such as aspiration, and addressing the etiology more specifically. [nature.com]

Hyperparathyroidism Adrenal (Addisons or Cushings) disease Infection HIV Toxoplasmosis Trichinosis Cysticercosis Drug-Induced Alcohol Statins, fibrates Hydroxychloroquine Cyclosporin A Amiodarone Others Metabolic myopathies Periodic paralysis Hypokalemia Etiology [rheumaknowledgy.com]

[…] age affecting more the heart, 3% over 70 years old] tumor forming amyloidosis nodules of infiltrates by plasma cells may occurs [tongue] tumor like deposits [pancreas islets and c cell thyroid tumors [calcitonin producing cells] There are three major etiologic [sinoemedicalassociation.org]

However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures. [dartmouth.edu]

Professor Damy’s main field of interest is amyloidosis, extending from its epidemiology and physiopathology through to its diagnosis and treatment. Particular current interests include early cardiac diagnosis markers from biology to imaging. [thaos.net]

Epidemiology As IIM are rare, few epidemiologic studies have been published. There is a growing need for accurate and reliable epidemiological studies. [journal.frontiersin.org]

Abnormal subcortical volumes and cortical thickness in Parkinson's disease with impulse control disorders Shweta Prasad, Venkateswara Reddy Reddam, Albert Stezin, Ravi Yadav, Jitender Saini, Pramod Kumar Pal DOI :10.4103/aian.AIAN_325_18 [ABSTRACT] [PDF] Epidemiologic [annalsofian.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]

Most of these lines of investigation have been based on epidemiological identification of specific risk factors. [dartmouth.edu]

Get a quick and memorable overview of anatomy, pathophysiology, and clinical presentation from the precision and beauty of Netter and Netter-style plates that highlight key neuroanatomical and neurologic concepts. [books.google.com]

Despite thorough clinical and laboratory examination, it is often difficult to assign a specific pathophysiologic mechanism to this finding. HyperCKemia is often an elusive clinical challenge. [clinicalgate.com]

New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 32: 178-184. [ Crossref ] Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, et al. (2005) Amyloid: toward terminology clarification. [oatext.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]

His main areas of scientific interest are systemic amyloidosis, cardiomyopathy pathophysiology, aortic diseases, heart failure, echocardiography and electrocardiography. [thaos.net]

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]

These treatments can give your body time to gradually clear the deposits before they build up again, and can help prevent organ damage. In most cases, the treatment will involve having chemotherapy. [nhs.uk]

It must be handled properly to maintain orientation of the fibers, to keep the fibers at rest length, and to prevent contraction. Specimen of skeletal muscle on 10-mm Rayport clamp is fixed in paraformaldehyde. [emedicine.medscape.com]