Genetic Disorders

Alport Syndrome – Types, Causes and Treatment

What is Alport Syndrome? Alport syndrome is a genetic illness that affects the functioning of the kidneys, eyes, and ears. It affects the collagen type IV in the body, which prevents these organs from functioning naturally. Also, it damages the glomeruli in the kidneys, which prevents the filtering of wastes from …

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Adrenoleukodystrophy – Overview and Diagnosis

Overview Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired …

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Stickler Syndrome – Definition, Types, Causes and Treatment

Definition Stickler syndrome and related disorders are a group of inherited conditions characterized by ocular abnormalities, hearing loss, and skeletal or joint problems. Most individuals with this syndrome have a distinct facial appearance with a flattened midface, sometimes with the Pierre Robin sequence. The majority of cases are caused by …

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Refsum Disease – Causes, Pathophysiology and Complications

Definition Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an …

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