Treatment is based on the signs and symptoms present in each person. [monarchinitiative.org]

Most cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. Theoretically NPC2 disease is treatable by bone marrow transplantation (BMT). [mangen.co.uk]

The management of the case and challenges presented are detailed in Table 1. Table 1. The diagnostic steps and challenges. [frontiersin.org]

Neonatal and infantile presentations of NPC are most commonly nonspecific and may go unrecognized. [centogene.com]

[…] disease Also disorders with massive cell destruction that overloads body's capacity to digest lipids ( thalassemia, sickle cell anemia, ITP, chronic renal failure ) Type A Definition / general : Acute neuronopathic form Most common type Occurs in infants Presents [pathologyoutlines.com]

Papandreou A, Gissen P: Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Therapeutic advances in neurological disorders 2016;9(3):216-229. [rarediseases.org]

Two-week NPC2 treatment significantly reduced COL1A1 gene expression. This effect was not found with four-week NPC2 treatment. [journals.plos.org]

As currently there is no effective treatment for the disorder, we have investigated the… CONTINUE READING [semanticscholar.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

In 2006, Jiang et al., summarized that decreased serum levels of cholesterol and apoAI may indicate a poor prognosis [ 21 ]. [jcancer.org]

The prognosis for people with Type C Niemann-Pick disease varies, with some who are less severely affected living well into adulthood. [medium.com]

[…] general : Chronic form (visceral form) without nervous system involvement Highest incidence in those of Turkish, Arabic and North African descent Uncommon in Ashkenazi Jews ( Am J Hum Genet 2002;71:1413 ) Onset of hepatosplenomegaly in preteen years Good prognosis [pathologyoutlines.com]

Prognosis  Type A: Most (approx. 85%) cases being fatal by 18 months. [de.slideshare.net]

85% of cases) [12] has an extremely poor prognosis, with most cases being fatal by the age of 18 months. [13] Type B (adult onset) and type C (mutation affecting a different molecule) Niemann–Pick diseases have a better prognosis. [3] Incidence Edit The [en.m.wikipedia.org]

Niemann-Pick type C2 disease ( NP-C2 ) is a fatal hereditary disorder of unknown etiology characterized by defective egress of cholesterol from lysosomes [5]. [wikigenes.org]

The association of diffuse pulmonary infiltration and hepatosplenomegaly can be observed in a number of diseases of varying etiologies, such as infectious diseases (tuberculosis, fungal diseases, malaria, and schistosomiasis), neoplastic diseases (lymphoma [scielo.br]

Niemann-Pick disease type C (NP-C) Ataxia Ataxia is a common but nonspecific sign of NP-C. 4, 23, 24 Early-onset ataxia, ataxia in combination with other clinical symptoms 25 (“ataxia plus”; see table 1 ), ataxia without neuropathy, or ataxia of unknown etiology [cp.neurology.org]

Etiology Mutations in either of the two genes, NPC1 or NPC2, may cause the disease [ 13 – 16 ]. [ojrd.biomedcentral.com]

Epidemiology of non-alcoholic fatty liver disease. Dig Dis. 2010;28: 155–161. pmid:20460905 View Article PubMed/NCBI Google Scholar 2. Younossi ZM, Stepanova M, Afendy M, Fang Y, Younossi Y, Mir H, et al. [journals.plos.org]

[…] characterised by mental retardation, seizures and often rapid neurodegeneration, in adults the disease is characterised by slow cognitive decline, major neuropsychiatric illness and the development of ataxia and dystonia. 1 The data are limited in terms of the epidemiology [touchneurology.com]

The objectives of the present study were to describe the most common HRCT findings and the major clinical and epidemiological characteristics observed in these patients. [scielo.br]

Epidemiology NP-C (either NP-C1 or NP-C2) shows autosomal recessive inheritance and is panethnic. [ojrd.biomedcentral.com]

Discussed topics • Introduction • History • Types • Prognosis • Incidence • Causes • Pathophysiology • Mechanism of Cholesterol Trafficking • Signs and Symptoms • Diagnosis • Treatment • Prevention • Research Direction 2 3. [de.slideshare.net]

Apr 2001, 98 (8) 4466-4471; DOI: 10.1073/pnas.081070898 Tate BA, Mathews PM, Targeting the Role of the Endosome in the Pathophysiology of Alzheimer's Disease: A Strategy for Treatment. Sci. Aging Knowl. Environ. 2006 (10), re2 (2006). [en.wikipedia.org]

Good pulmonary hygiene is important and precautions should be taken to prevent aspiration. References References Verot L, Chikh K, Freydi?(r)re E, Honor?(c) R, Vanier MT, Millat G. [disorders.eyes.arizona.edu]

This heterogeneity most likely prevented crystal formation in initial crystallization trials. The protein was deglycosylated by using EndoH f enzyme. [pnas.org]

Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. [omicsonline.org]

Mutations in these genes lead to a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. [medicinenet.com]

Discussed topics • Introduction • History • Types • Prognosis • Incidence • Causes • Pathophysiology • Mechanism of Cholesterol Trafficking • Signs and Symptoms • Diagnosis • Treatment • Prevention • Research Direction 2 3. [de.slideshare.net]