Health and Fitness

Description Denon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34. Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most affected men have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Other affected males have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected men with hypertrophic cardiomyop...

 Dandy Walker Malformation Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by agenesis or hypoplasia of the vermis and cystic enlargement of the fourth ventricle causing upward displacement of tentorium and torcula. Most patients have hydrocephalus at the time of diagnosis. DMW is the most common posterior fossa malformation, and it typically occurs sporadically. This activity reviews the presentation of Dandy-Walker malformation and highlights the role of the interprofessional team in its management. Objectives: Review the etiology of Dandy-Walker malformation. Describe the presentation of Dandy-Walker malformation. Summarize the treatment of Dandy-Walker malformation. Review the importance of improving care coordination among interprofessional team members to improve outcomes for patients affected by Dandy-Walker malformation. Synonyms Dandy-Walker Cyst Dandy-Walker Deformity Dandy-Walker Syndrome DWM Hydrocephalus, Internal, Dandy-Walker Ty...

 Chediak Higashi Syndrome Chediak Higashi syndrome (CHS) is an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogenic infections. The defect is caused by a mutation in the lysosomal trafficking regulator protein that leads to decreased phagocytosis and predisposition to recurrent bacterial infection. This activity reviews the evaluation and management of Chediak Higashi syndrome and explains the role of the interprofessional team in managing patients with this condition. Objectives: Identify the mutations in LYST or CHS1 gene as the underlying defect in the etiology of Chediak Higashi syndrome. Describe the pathophysiology of Chediak Higashi syndrome. Summarize the use of allogeneic hematopoietic stem cell transplantation (HSCT) as the only cure of Chediak Higashi syndrome. Review the importance of improving care coordination among the interprofessional team members to educate the caregiver on methods to prevent complicat...

 Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms. Sometimes, these mutations damage the nerves. Other mutations damage the protective coating that surrounds the nerve (myelin sheath). Overview Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common. Symptoms usually begin in the feet and legs, but they may eventually affect your hands and arms. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adul...

 Chandler’s Syndrome Disease Overview Chandler’s syndrome (CS) is a rare eye disorder in which the endothelium, the single layer of cells lining the interior of the cornea, proliferates causing corneal edema, distortion of the iris, and unusually high pressure in the eye (glaucoma). CS is one of three syndromes affecting the eyes (progressive iris atrophy and Cogan-Reese syndrome are the other two) that make up the iridocorneal endothelial syndrome (ICE syndrome). The spectrum is an acquired, unilateral disorder, which typically occurs in early to middle adulthood and predominantly affects women. Chandler’s syndrome is the most commonly encountered clinical variant of this spectrum. Most often the condition affects one eye only, but the fellow eye often has subclinical involvement. The combination of high pressure within the eye (glaucoma) and corneal edema can result in reduced vision, frequently requiring surgical intervention with variable success rates. Advocacy and Support Gro...

  Chanarin-Dorfman syndrome Other Names:  CDS; Chanarin-Dorfman disease; DCS; Disorder of cornification 12 (neutral lipid storage type); Dorfman Chanarin syndrome; Ichthyosiform erythroderma with leukocyte vacuolation; NLSDI; Neutral lipid storage disease with ichthyotic; Triglyceride Description Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes. difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs ...