A concise guide to Acid Sphingomyelinase Deficiency (ASMD / Niemann-Pick Disease/ NPD-A/B), based on the NORD rare disease database

Recognise the signs, symptoms and clinical presentations of Acid sphingomyelinase deficiency

Recall the causes and diagnosis of Acid sphingomyelinase deficiency

Describe and explain the standard and investigational therapies for Acid sphingomyelinase deficiency

Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

National Organisation for Rare Disorders (NORD) 

Concise Guides to Rare Disorders

Learn key clinical information on diagnosis and management of rare disorders ranging from Acanthosis Nigrans to Duchenne Muscular Dystrophy, from the National Organization for Rare Disorders.

James Wadkin

In this module we will learn about the causes, signs, symptoms and treatments of  Brown Séquard Syndrome

A Concise Guide to Brown Séquard Syndrome

This module was developed from the NORD guide to Andersen-Tawil Syndrome

A Concise Guide to Andersen-Tawil Syndrome

This module was developed from the NORD guide to cicatricial alopecia

A Concise Guide to Cicatricial Alopecia

A Concise Guide to Retinal Cone Dystrophy from NORD

A Concise Guide to Cone Dystrophy

This module was developed from the NORD guide to AIDS Dysmorphic Syndrome

A Concise Guide to AIDS Dysmorphic Syndrome

This module was developed from the NORD guide to chronic lymphocytic leukaemia

A Concise Guide to Chronic Lymphocytic Leukaemia

Developed by NORD experts as a concise guide to ALS 

A Concise Guide to ALS - Amoytrophic Lateral Sclerosis

This module is based on the NIH and NORD guidance on XLH also known as Vitamin D Resistant Rickets

A Concise Guide to XLH - X-Linked Hypophosphatemia

This module was developed from the NORD guide to ITP

A Concise Guide to Immune Thrombocytpenia

This concise guide learning module explores the diagnosis and management of Paget's Disease of the bone for clinicians, based on a NORD physician guide

Paget's Disease of the Bone

This concise guide, based on the NORD rare disease database, explores Churg Strauss Syndrome (Eosinophilic granulomatosis with polyangiitis, EPGA) for physicians

A Concise Guide to Churg Strauss Syndrome

This concise guide, based on the NORD rare disease database, explores Autosomal Dominant Polycystic Kidney Disease (ADPKD) for physicians

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

This concise guide, based on the NORD rare disease database, explores Congenital Adrenal Hyperplasia (CAH) for physicians

Congenital Adrenal Hyperplasia

This concise guide, based on the NORD rare disease database, explores Ewing (Ewing's) Sarcoma for physicians

Ewing Sarcoma

This concise guide, based on the NORD rare disease database, explores Behçet’s Syndrome for physicians

A Concise Guide to Behçet’s Syndrome

This concise guide, based on the NORD rare disease database, explores Kearns Sayre Syndrome for physicians

A Concise Guide to Kearns Sayre Syndrome 

This concise guide learning module explores the diagnosis and management of cystinuria for clinicians, based on a NORD physician guide

Concise Guide to Cystinuria

The NORD guide to Duchenne Muscular Dystrophy (DMD)

A Concise Guide to Duchenne Muscular Dystrophy (DMD)

This short module brings together a collection of resources related to the extremely rare condition, atypical haemolytic uraemic syndrome (aHUS).

A Concise Guide to aHUS - Atypical Haemolytic Uraemic Syndrome

In this module we will learn about characteristic features of Acanthosis Nigrans. Photo from https://dermnetnz.org/topics/acanthosis-nigricans/

A Concise Guide to Acanthosis Nigrans

A concise guide to the diagnosis and management of dermatomyositis, based on the NORD rare disease database

Dermatomyositis

This guide explores the key concepts in diagnosis and management of tuberculosis for general physicians with specific reference to the International  and European Standards for Tuberculosis Care

A Concise Guide to Tuberculosis (TB)

In this interactive module we will cover the signs and symptoms, diagnosis and management of pernicious anaemia