gene therapy

MUTYH-associated Polyposis: Causes, Symptoms & Treatment

MUTYH-associated polyposis is closely related to adenomatous familial polyposis and is caused by a genetic mutation. Patients suffer from multiple colon polyps with risk of degeneration. Regular colonoscopies are mandatory. What is MUTYH-associated polyposis? Polyposis is polyp disease in hollow organs. Polyps are outpouchings of the mucosa that occur more frequently in the gastrointestinal tract, … MUTYH-associated Polyposis: Causes, Symptoms & Treatment

Machado-Joseph Disease: Causes, Symptoms & Treatment

Machado-Joseph disease is a neurodegenerative disorder belonging to the spinocerebellar ataxia group. The cause of the disease is a genetic mutation that is passed on in an autosomal dominant inheritance. To date, only supportive treatments such as physical and occupational therapy are available. What is Machado-Joseph disease? Neurodegenerative diseases are characterized by pathologic processes in … Machado-Joseph Disease: Causes, Symptoms & Treatment

Floating Harbor Syndrome: Causes, Symptoms & Treatment

Floating harbor syndrome is a condition that affects patients from birth. Floating harbor syndrome appears with relatively low average frequency in the population. Typical for the disease are short stature with anomalies in the face. In addition, the speech ability of the person suffering from floating harbor syndrome develops delayed. What is floating harbor syndrome? … Floating Harbor Syndrome: Causes, Symptoms & Treatment

Clouston Syndrome: Causes, Symptoms & Treatment

Clouston syndrome is a type of ectodermal dysplasia. It is caused by an autosomal dominant inherited mutation. No causative treatment is available. What is Clouston syndrome? Dysplasias are malformations in various tissues. The heterogeneous disease group of ectodermal dysplasia includes inherited defects associated with malformations of structures from the outer cotyledon. The outer cotyledon of … Clouston Syndrome: Causes, Symptoms & Treatment

Mandibuloacral Dysplasia: Causes, Symptoms & Treatment

Mandibuloacral dysplasia is a congenital malformation syndrome associated with abnormalities of the skeleton that is inherited in an autosomal recessive manner. Two different types of the disease are known, caused by mutations in two different genes. A causative therapy does not yet exist. What is mandibuloacral dysplasia? In medicine, dysplasias are congenital malformations in human … Mandibuloacral Dysplasia: Causes, Symptoms & Treatment

Gollop-Wolfgang Syndrome: Causes, Symptoms & Treatment

Gollop-Wolfgang syndrome is a complex of malformations characterized by symptoms such as tibial aplasia or the characteristic split hand. The syndrome probably has a hereditary basis. Treatment options include orthopedic, reconstructive, and prosthetic steps. What is Gollop-Wolfgang syndrome? Gollop-Wolfgang syndrome is one of the congenital malformations of the extremities. The complex of symptoms was first … Gollop-Wolfgang Syndrome: Causes, Symptoms & Treatment

Hornstein-Knickenberg Syndrome: Causes, Symptoms & Treatment

Hornstein-Knickenberg syndrome is a genetic disorder associated with mutation of elements of the mTOR signaling chain. Because this signaling chain affects cell growth and mortality, mutation manifests in multiple cell proliferations. The tumors manifest as multisystem disease. What is Hornstein-Knickenberg syndrome? Hornstein-Knickenberg syndrome was first described in the 20th century by German dermatology professor Otto … Hornstein-Knickenberg Syndrome: Causes, Symptoms & Treatment

Pelizaeus-Merzbacher Disease: Causes, Symptoms & Treatment

Pelizaeus-Merzbacher disease is a hereditary leukodystrophy with degeneration of the nerve substance. Affected individuals suffer from a mutation-related disorder of myelination that results primarily in motor and intellectual deficits. Therapy of the disease has been limited to supportive measures of physiotherapy and psychotherapy. What is Pelizaeus-Merzbacher disease? Leukodystrophies are genetic metabolic diseases in which the … Pelizaeus-Merzbacher Disease: Causes, Symptoms & Treatment

Birt-Hogg-Dube Syndrome: Causes, Symptoms & Treatment

Birt-Hogg-Dube syndrome is an autosomal dominant inherited disorder based on mutations in the FLCN gene. Patients suffer from multiple skin lesions, lung cysts, and renal tumors. Treatment is limited to symptomatic resection and, if necessary, follow-up of the tumors. What is Birt-Hogg-Dube syndrome? Hereditary diseases are conditions caused by mutation(s) in one or more genes … Birt-Hogg-Dube Syndrome: Causes, Symptoms & Treatment

Melorheostosis: Causes, Symptoms & Treatment

In melorheostosis, bones of the extremities thicken completely or proportionally without patients noticing. Only in rare cases do edema of the muscles, growth disturbances, or movement restrictions become apparent. Symptomatic therapy is limited to patients with actual symptoms. What is melorheostosis? Diseases with more specified alterations in bone density or structure are a broad group … Melorheostosis: Causes, Symptoms & Treatment