Andersen disease This is a Rare medical condition. A glycogen storage disease which is of severe nature. Approximately 3% of all the glycogen storage diseases . Synonyms Amylopectinosis Glycogen storage disease due to glycogen branching enzyme deficiency GSD due to glycogen branching enzyme deficiency GSD type 4 GSD type IV Glycogen storage disease type 4 …
Chronic inflammatory demyelinating polyradiculoneuropathy A rare medical condition which is a sensory motor disorder. This disease is progressive in nature or might be a symmetric relapsing. The condition is a chronic monophasic manifesting as the weakness of the muscles which is usually progressive in nature. The characteristic features of this disease are impaired sensation increased …
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Cloistered syndrome Cloistered syndrome (LIS) is a rare medical disease affecting the neurological system. Features of Cloistered syndrome Sustained eye opening quadriplegia or quadriparesis anarthria preserved cognitive functions and a primary code of communication using vertical eye movements or blinking Symptoms of Cloistered syndrome Very Common Symptoms and Signs (80%-98%) Abnormality of the eye Abnormality …
Hereditary elliptocytosis Hereditary elliptocytosis is a rare medical condition. The manifestations of this disease might vary from mild to severe hemolytic anemia which is transfusion dependent This condition is a heterogenous disorder of the membrane of the red cell, the heterogenicity is clinical and genetical. Mandatory Symptoms and Signs (100% present) Majority of the affected …
Freibergs disease Freibergs disease is a rare medical condition. The target areas of the body affected are the Foot long bones called as the second and third of the metatarsals Who is at risk for Freibergs disease Adolescence age group are more affected, especially the second decade Any age are susceptible to this disease How common …
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Pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS) PANDAS in short A subset of pediatric acute-onset neuropsychiatric syndromes, resembling tic disorders and OCD, has been implicated to associate with recent GAS infection in school-aged children. These are classified as PANDAS. Working diagnostic criteria include OCD or tic disorder of abrupt onset and episodic course between …
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What is the genetic defect in liddle syndrome, and how are such patients treated? Liddle syndrome is a rare (∼30 pedigrees described through 2008) autosomal-dominant disorder caused by a gain of function mutation of the epithelial sodium channel (ENaC) in the cortical collecting tubule. The mutation causes increased sodium reabsorption, volume expansion, and blood pressure. …