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Menkes disease | Getting a Diagnosis | GARD - Genetic and Rare Diseases . . . Learn about symptoms, cause, support, and research for a rare disease Getting a Diagnosis Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care Resources and Support
Genetic and Rare Diseases Information Center | GARD Discover resources, disease experts, or clinical studies for a rare disease Important: GARD provides information about rare diseases for your general knowledge and is not a substitute for the advice of a health care provider Phone Available Monday through Friday
Hennekam syndrome | About the Disease | GARD - Genetic and Rare . . . Hennekam syndrome is a rare condition that affects the lymphatic system Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family
Zellweger syndrome | About the Disease | GARD - Genetic and Rare . . . Zellweger syndrome is caused by genetic changes in any one of at least 12 genes; genetic changes in the PEX1 gene are the most common cause It is inherited in an autosomal recessive manner Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum
Wilson disease | About the Disease | GARD - Genetic and Rare Diseases . . . Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes
Becker muscular dystrophy | About the Disease | GARD - Genetic and Rare . . . Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles It primarily affects males In some cases, heart involvement (cardiomyopathy) is the first sign