muscle hypotonia

Joubert Syndrome: Causes, Symptoms & Treatment

Joubert syndrome is characterized by a congenital malformation of the brain stem as well as agenesis (inhibition malformation, lack of attachment, for example, cerebral bar, vermiform appendix). There may also be hypoplasia (underdevelopment) of the cerebellar vermis. Patients suffering from this autosomal recessive genetic defect exhibit abnormal respiratory behavior and ataxia, among other symptoms. What … Joubert Syndrome: Causes, Symptoms & Treatment

Desbuquois Syndrome: Causes, Symptoms & Treatment

Desbuquois syndrome is a rare and congenital osteochondrodysplasia. The leading symptom is severe short stature with spinal curvature and shortened extremities. In addition to physiotherapeutic measures, surgical correction procedures are primarily used for treatment. What is Desbuquois syndrome? Osteochondrodysplasias are the disease group of skeletal dysplasias and cartilage dysplasias. These tissue defects include Desbuquois syndrome, … Desbuquois Syndrome: Causes, Symptoms & Treatment

Muscle Hypotonia: Causes, Symptoms & Treatment

By muscle hypotonia, the medical profession understands too little muscle tension with simultaneous weakness of the musculature, which is already noticeable in childhood. It always occurs as a symptom of an underlying disease and is treated with physiotherapeutic measures. What is muscle hypotonia? The term muscle hypotonia is composed of muscles and the Latin word … Muscle Hypotonia: Causes, Symptoms & Treatment

GM1 Gangliosidosis: Causes, Symptoms & Treatment

GM1 gangliosidosis is one of the lipid storage diseases. It is caused by the storage of sugary lipids called gangliosides. Most gangliosides are deposited in nerve cells. What is GM1 gangliosidosis? GM1 gangliosidosis is a degradation disorder of GM1 gangliosides. This results in the accumulation of this sugar-containing lipid. In general, gangliosides consist of two … GM1 Gangliosidosis: Causes, Symptoms & Treatment