Symptoma

Familial Amyloid Polyneuropathy Type 4

Meretoja's Syndrome

We present the first report of a Korean family with HGA diagnosed by WES. WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies. [ncbi.nlm.nih.gov]

  • Laboratory Technician

    Acknowledgments We are grateful to Ari Frilander, BSc, Tuija Järvinen and Ilse Pyy, laboratory technicians, for skilled technical assistance. We thank Dr. Blas Frangione for the amyloid A and variant cystatin C antibodies, and Dr. [academic.oup.com]

  • Dysphagia

    Muscular weakness, dysphagia, and macroglossia are observed in some older AGel amyloidosis patients ( 2 ) and may reflect amyloid myopathy ( 33, 34 ). [academic.oup.com]

  • Dysphagia

    Muscular weakness, dysphagia, and macroglossia are observed in some older AGel amyloidosis patients ( 2 ) and may reflect amyloid myopathy ( 33, 34 ). [academic.oup.com]

  • Tongue Atrophy

    A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. [ncbi.nlm.nih.gov]

  • Areflexia

    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 Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia [books.google.com]

    Aged patients may show severe bulbar signs, profound loss of vibratory sensitivity with areflexia, unsteady gait, and manual clumsiness ( 4 ). Autonomic dysfunction is mild ( 6 ). [academic.oup.com]

  • Kidney Failure

    Kidney failure often dominates the clinical picture and a kidney transplant may effectively restore normal health for a long time. [ucl.ac.uk]

    In some cases, the amyloid deposits will cause the kidneys to lose the ability to purify the blood, which can lead to kidney failure; also known as “renal” failure. These patients may need dialysis to replace the function of the kidneys. [amyloidosis.org]

Following this workup the patient should undergo a DNA analysis and tissue biopsy (Table 1 ), although the uneven distribution of amyloid fibrils may yield false-negative results. [ojrd.biomedcentral.com]

In HGA, specific therapy is not yet available but correct diagnosis enables adequate symptomatic treatment which decisively improves the quality of life in these patients. [ncbi.nlm.nih.gov]

Treatment Treatment Options: Penetrating keratoplasty can be beneficial but is rarely needed for visual rehabilitation. The amyloid deposits may recur in the donor tissue. [disorders.eyes.arizona.edu]

She had been referred to the Ophthalmology Division at Hospital de Clinicas in Buenos Aires for diagnosis and treatment. [karger.com]

In some cases that present with extremely low visual acuity due to corneal scarring, a corneal transplant could be performed, but prognosis is very poor [ 11 ]. [karger.com]

Clinical presentation, treatment, and prognosis of periocular and orbital amyloidosis in a university-based referral center. Clin Ophthalmol 2013;7:801–5. 10.0 10.1 Gertz M, Lacy M, Dispenzieri A. Amyloidosis. [eyewiki.aao.org]

Diagnosis, prognosis, and therapy of transthyretin amyloidosis. J Am Coll Cardiol. 2015;66:2451-2466. Mahmoud S, Palladini G, Sanchorawala V, Wechalekar A. Update on treatment of light chain amyloidosis. Haematologica. 2014;99:209-221. [rarediseases.org]

The prognosis depends very much on the degree of response to treatment, which varies between patients. [ucl.ac.uk]

The symptoms, as well as the prognosis, depend on the tissue and organ(s) affected by the amyloid deposits. [amyloidosis.org]

To identify the etiology of the undiagnosed neuropathy, we performed whole-exome sequencing (WES) following written informed consent. Germline DNA was obtained from the four individuals ( Fig. 1A ). [synapse.koreamed.org]

This has also proved to be valid for assessing other etiologic forms of amyloidotic cardiomyopathy [ 70 ]. Pericardial effusion is another frequent finding in cardiac amyloidosis. [ojrd.biomedcentral.com]

Pagina 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Pagina 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.it]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

Relevant External Links for GSN Genetic Association Database (GAD) GSN Human Genome Epidemiology (HuGE) Navigator GSN Atlas of Genetics and Cytogenetics in Oncology and Haematology: GSN No data available for Genatlas for GSN Gene Identification of Tyr438 [genecards.org]

PubMed Central PubMed View Article Google Scholar Sousa A, Coelho T, Barros J, Sequeiros J: Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). [ojrd.biomedcentral.com]

Nakamura T (2011) Amyloid A amyloidosis secondary to rheumatoid arthritis: pathophysiology and treatments. Clin Exp Rheumatol 29:850–857 PubMed 29. [springermedizin.de]

Pathophysiology As with other amyloid diseases, LCD2 is based on misfolded proteins forming β-sheets instead of α-helices creating fibrillar amyloid structures that accumulate in affected organs to cause pathology. [webeye.ophth.uiowa.edu]

Islet amyloid and type 2 diabetes; from molecular misfolding to islet pathophysiology. Biochim Biophys Acta. 2001;1537:179-203. Sanchorawala V, Wright DG, Seldin DC, et al. [rarediseases.org]

The clinical spectrum of cardiovascular involvement is wide, ranging from asymptomatic AV and bundle branch block to severe, rapidly progressive heart failure due to restrictive pathophysiology. [ojrd.biomedcentral.com]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

Acknowledgements The authors are grateful to Prevention Genetics (Marshfield, WI, USA) for their help with the genetic testing of our patients. [karger.com]

Alternative names Actin depolymerizing factor Actin-depolymerizing factor ADF see all Function Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking [abcam.com]

[…] therapy Keratoplasty or keratectomy (phototherapeutic or superficial) can provide temporary visual improvement, but recurrence of amyloid deposition is inevitable Associated dry eye syndrome management is important in maintaining the ocular surface to prevent [webeye.ophth.uiowa.edu]

Mar 2019, In : Journal of Cardiopulmonary Rehabilitation and Prevention. 39, 2, p. 85-90 6 p. [monash.edu]