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]

• Difficulty Walking

  Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent [books.google.com]

  Such patients may have difficulty walking in the dark or on irregular surfaces because of proprioceptive problems with the feet. Polyneuropathy may also result in distal weakness and atrophy if there is actual loss of motor axons. [dartmouth.edu]

• Episodic Weakness

  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]

• Proximal Muscle Weakness

  Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An [books.google.com]

  Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement. [clevelandclinicmeded.com]

  The study was restricted to myositis patients who were 16 years or older at diagnosis and who had a subacute onset of symmetric proximal muscle weakness. [hopkinsarthritis.org]

  Proximal muscle weakness ensues, and is frequently worse in the lower limbs. After years of progression, patients develop dysphonia and aspiration. [nature.com]

  Polymyositis usually appears in people 30-60 years old and presents as insidious onset of symmetrical, proximal muscle weakness, occasionally accompanied by muscle soreness. [dartmouth.edu]

• Calf Hypertrophy

  Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle [books.google.com]

  In the muscular dystrophies, which tend to manifest in childhood or adolescence, dyspnea, cardiac abnormalities, contractures, scapular winging, calf hypertrophy, and skeletal deformities may be present in addition to slowly progressive weakness. [clevelandclinicmeded.com]

  contractures, skeletal dysmorphisms, calf hypertrophy, myotonia, cardiac involvement, or subtle to marked dermatologic changes). [clinicalgate.com]

  Calf hypertrophy is an early sign. The later occurrence of macroglossia further complicates the oral phase of swallowing. There are also reports of impaired gastric motility owing to the involvement of smooth muscles. [nature.com]

  hypertrophy or atrophy Clinical myotonia or myotonic discharges on EMG CK level 100X Muscular dystrophies that mimic adult polymyositis Certain muscular dystrophies may mimic polymyositis, in part because they may show endomysial inflammation. [hopkinsarthritis.org]

• Leg Pain

  […] with Proximal Weakness 448 Case 72 A Young Woman with Distal Upper Extremity Weakness 454 Case 73A A Young Man with Episodic Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg [books.google.com]

  Anticipation: Not explained by triplet repeats Homozygotes & heterzygotes with same clinical manifestations Penetrance: Variable: 30% to 95% FAP I Presentation: Generalized Autonomic & Sensory Polyneuropathy Onset: Legs Painful dysesthesias Most common [sinoemedicalassociation.org]

• 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]

• Foot Drop

  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]

  MMN Multifocal Motor Neuropathy and Multifocal Conduction Blocks anti GM1 men acute onset of wrist or foot drop painless no sensory symptoms !! [brainscape.com]

  In the arms, the hand intrinsic muscles and the extensors of the fingers and wrist are preferentially affected; in the legs, patients may develop foot drop. Proximal limbs are less affected. [nature.com]

  Foot drop is common and dysphagia may occur. CPK levels are normal or only minimally elevated. Mixed myopathic and “neurogenic” features are present on electromyography. The disease is typically resistant to immunosuppressive therapy. [hopkinsarthritis.org]

• 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]

• Limb Weakness

  Dysphagia (difficulty swallowing) and proximal limb weakness Red Hands, Nav1.7 mutation hypersensitive AD Transthyretin - autonomous, GI, Heart, lancinating pains ApoA1 - early renal involvement Gelsolin - finish type - corneal clouding and cranial nerves [brainscape.com]

  On the other hand, patients with two copies of the polymorphic allele manifest a more benign phenotype, and in these patients limb weakness is usually mild and dysphagia may be the only presenting manifestation. [nature.com]

  Limb-girdle muscular dystrophy This is a heterogeneous group of conditions that usually appear in adolescence or adult life with proximal limb weakness. The weakness usually progresses slowly, but it may arrest spontaneously. [dartmouth.edu]

• Cerebellar Ataxia

  ataxia myoclonus senory neuropathy Antigliadin AB Polyneuropathy with Paraproteinemia (6) M-spike 1) M-gus --- MAG --- POEMS 2) POEMS 3) MM 4) Waldenstroem 5) Cryoglobulinemia 6) Acquired Amyloid neuropathy Monoclonal Gammopathy of undetermined Significance [brainscape.com]

• 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 Velocities

  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]

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

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

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]

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

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]