Genetic Disorders

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 …

Read More »

Prader-Willi syndrome – Complications, Risk Factors and Treatment

Definition Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. …

Read More »

Adrenomyeloneuropathy – Symptoms, Diagnosis, and Prevention.

Definition Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual …

Read More »

Gricelli Syndrome – Causes, Diagnosis, and Treatment.

Gricelli Syndrome – Overview Gricelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe …

Read More »