Myotonia congenita Thomsen is a so-called hereditary disease; it is a hyperexcitability of skeletal muscles. Myotonia congenita Thomsen is one of the hereditary diseases. The prognosis and course of the disease are quite positive; severe limitations that significantly affect the quality of life are not expected. What is myotonia congenita Thomsen? Under the term myotonia … Myotonia Congenita Thomsen: Causes, Symptoms & Treatment
Antley-Bixler syndrome is a genetically caused disorder whose incidence in the general population is relatively low. The commonly used abbreviation for the disorder is ABS. To date, approximately 50 cases of the disease are known and described in individuals. Basically, Antley-Bixler syndrome appears equally in men and women. What is Antley-Bixler syndrome? Antley-Bixler syndrome got … Antley-Bixler Syndrome: Causes, Symptoms & Treatment
Phenotypic variation describes different trait expressions of individuals with the same genotype. The principle was popularized by the evolutionary biologist Darwin. Diseases such as sickle cell anemia are based on phenotypic variation and were originally associated with an evolutionary advantage. What is phenotypic variation? By phenotypic variation, biology refers to the different trait expressions between … Phenotypic Variation: Function, Role & Diseases
Paramyotonia congenita belongs to the group of forms of myotonia characterized by prolonged states of muscle tension. It is a genetic disorder in which the function of sodium channels is impaired. Symptoms occur only when the muscles cool down or during prolonged physical activity and are not noticeable or barely noticeable when the muscles are … Paramyotonia Congenita: Causes, Symptoms & Treatment
Ohtahara syndrome is an extremely rare condition that occurs in newborns. Infants with the disease experience epileptic seizures. Both sexes are affected by the disease. What is Ohtahara syndrome? Ohtahara syndrome or early infantile myoclonic encephalopathy refers to a developmental brain disorder. Those affected are newborns who present with muscle tension problems as well as … Ohtahara Syndrome: Causes, Symptoms & Treatment
Fibrodysplasia ossificans progressiva (FOP) is a very rare hereditary disorder characterized by progressive ossification of the skeleton. Even the smallest injuries trigger additional bone growth. There is not yet a causative treatment for this disease. What is fibrodysplasia ossificans progressiva? The term fibrodysplasia ossificans progressiva already indicates progressive bone growth. This occurs in spurts, and … Fibrodysplasia Ossificans Progressiva: Causes, Symptoms & Treatment
Fechtner syndrome is a platelet defect. The cause is due to a mutation in the genetic material: Affected parents can pass the syndrome on to their children. What is Fechtner syndrome? Fechtner syndrome is an inherited disorder that the World Health Organization (WHO) classifies as a qualitative platelet defect (ICD-10, D69.1). The syndrome thus belongs … Fechtner Syndrome: Causes, Symptoms & Treatment
Greig syndrome is a medical term for a congenital malformation syndrome associated primarily with facial deformities and multi-jointedness of the fingers and toes. Although the hereditary syndrome cannot be cured, it can be treated surgically. Patients with the mutation-related disease are considered to have an excellent prognosis. What is Greig syndrome? Greig syndrome is also … Greig Syndrome: Causes, Symptoms & Treatment
Termination is the final phase in DNA replication. It is preceded by initiation and elongation. Premature termination of replication can result in the expression of truncated proteins and thus mutation. What is termination? Termination is the final stage in DNA replication. During replication or reduplication, the genetic information carrier DNA is multiplied in individual cells. … Termination: Function, Tasks, Role & Diseases
Partington syndrome is a congenital disorder that manifests in specific leading symptoms. For example, Partington syndrome is associated with mental retardation, dystonic movements of the hands, and dysarthria. Intellectual abilities are only mildly to moderately impaired in Partington syndrome. Partington syndrome represents an x-linked inherited disorder. What is Partington syndrome? Partington syndrome is enormously rare. … Partington Syndrome: Causes, Symptoms & Treatment
Erythropoietic protoporphyria (EPP) is a rare hereditary disease that is classified as a porphyria. In this condition, protoporphyrin accumulates in the blood and liver as a precursor of heme. If the liver is involved, the disease can be fatal. What is erythropoietic protoporphyria? Erythropoietic protoporphyria is characterized by an accumulation of protoporphyrin in erythrocytes. It … Erythropoietic Protoporphyria: Causes, Symptoms & Treatment
Oto-spondylo-megaepiphyseal dysplasia is a mutation-related skeletal dysplasia. Patients suffer lead symptomatically from defects of bone and cartilage tissue and sensorineural hearing loss. Treatment is purely symptomatic and usually includes pain management. What is oto-spondylo-megaepiphyseal dysplasia? Skeletal dysplasias are congenital disorders of bone or cartilage tissue and are also known as osteochondrodysplasias. A myriad of disorders … Oto-spondylo-megaepiphyseal Dysplasia: Causes, Symptoms & Treatment
