Patient Guides to understanding medical conditions

Achondroplasia is a genetic condition affecting bone growth, leading to disproportionate short stature. It is the most common cause of dwarfism. Achondroplasia: A Brief Background Achondroplasia occurs due to a change (mutation) in the FGFR3 gene. This gene provides instructions for making a protein involved in bone growth. This mutation

This guide is designed to help you understand alpha-1 antitrypsin deficiency (AATD), a rare genetic condition. By breaking down the key aspects of the disease, we aim to provide clear, easy-to-understand information to support you in managing your health. What is Alpha-1 Antitrypsin Deficiency (AATD)? Alpha-1 antitrypsin deficiency (AATD) is

Alzheimer’s disease is a progressive condition that affects the brain, causing problems with memory, thinking, and behaviour. It is the most common cause of dementia, a general term for a decline in mental abilities severe enough to interfere with daily life. This guide explains Alzheimer’s disease, its causes, symptoms, treatments,

This guide is designed to help you understand transthyretin amyloid cardiomyopathy (ATTR-CM), a rare but serious condition. By breaking down the key aspects of the disease, we aim to provide you with clear, easy-to-understand information. What is ATTR-CM? ATTR-CM stands for transthyretin amyloid cardiomyopathy. It is a condition where an

BAG3-associated dilated cardiomyopathy (DCM) is a rare genetic condition that affects the heart muscle, leading to its weakening and enlargement. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it. What is BAG3-Associated Dilated Cardiomyopathy? Dilated cardiomyopathy (DCM) is a condition where the heart

Beta thalassaemia is a genetic blood disorder that affects the production of haemoglobin, the protein in red blood cells that carries oxygen around your body. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it. What is Beta Thalassaemia? Beta thalassaemia occurs when your