Tag: cognitive impairment

Van Lohuizen Syndrome

Explore the complexities of Van Lohuizen Syndrome, a rare genetic disorder characterized by distinct facial features, organ anomalies, and developmental delays. Discover its causes, associated symptoms, diagnosis, and treatment options, as well as the importance of early intervention and supportive resources for affected individuals and families.
Sudanophilic Leukodystrophy

Sudanophilic Leukodystrophy: Definition and Description of Sudanophilic Leukodystrophy: Sudanophilic Leukodystrophy is a rare genetic disorder that primarily affects the myelin sheath, the protective covering of nerves in the brain and spinal cord. This condition is categorized under leukodystrophies, which are a group of inherited or acquired disorders that disrupt the growth or maintenance of the…
Subcortical Ischemic Vascular Disease

Subcortical Ischemic Vascular Disease: Definition and Description of Subcortical Ischemic Vascular Disease: Subcortical Ischemic Vascular Disease (SIVD) is a neurological condition characterized by damage to the deep white matter of the brain caused by reduced blood flow, often linked to small vessel disease. It primarily affects the subcortical structures, including the basal ganglia and thalamus,…
Subcortical Dementia

Subcortical Dementia: Definition and Description of Subcortical Dementia: Subcortical dementia is a type of cognitive impairment that primarily involves the subcortical regions of the brain, including the basal ganglia and thalamus. Unlike cortical dementias, which affect the cerebral cortex and tend to lead to prominent memory loss, subcortical dementia often manifests with changes in movement,…
Prader Willi Syndrome

Prader Willi Syndrome: Definition and Description of Prader Willi Syndrome: Prader Willi Syndrome (PWS) is a complex genetic disorder characterized by a range of symptoms including hypotonia (poor muscle tone), obesity, cognitive impairment, and behavioral issues. PWS is caused by the loss of function of specific genes on chromosome 15, which typically occurs due to…
Phenylketonuria (PKU)

Phenylketonuria (PKU): Definition and Description of Phenylketonuria (PKU): Phenylketonuria (PKU) is a rare genetic disorder that affects the metabolism of phenylalanine, an amino acid found in many protein-containing foods. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine, another amino acid. In individuals with…
Lennox-Gastaut Syndrome

Lennox-Gastaut Syndrome Definition and Description of Lennox-Gastaut Syndrome Lennox-Gastaut Syndrome (LGS) is a severe form of epilepsy that typically emerges during childhood. Characterized by multiple types of seizures, including tonic (stiffening), atonic (drop seizures), and atypical absence seizures, LGS often leads to significant cognitive impairment. The diagnosis is usually made in children between ages 3…
Idiopathic Basal Ganglia Calcification

Idiopathic Basal Ganglia Calcification Idiopathic Basal Ganglia Calcification Definition and Description of Idiopathic Basal Ganglia Calcification Idiopathic Basal Ganglia Calcification (also known as Fahr’s syndrome) is a rare neurological condition characterized by abnormal calcium deposits in the basal ganglia, which are clusters of nerve cells responsible for regulating movement. The term “idiopathic” indicates that the…
Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO)

Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) Definition and Description of Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) is a rare genetic disorder characterized by a triad of symptoms: hypotonia (decreased muscle tone), hypomentia (reduced cognitive abilities), and hypogonadism (underdeveloped reproductive organs), in addition to obesity. This condition often results in significant developmental delays and physical challenges, requiring multidisciplinary care.…
Fahr Disease

Fahr Disease Definition and Description of Fahr Disease Fahr Disease, also known as Fahr’s Syndrome, is a rare neurological disorder characterized by the abnormal accumulation of calcium in areas of the brain known as the basal ganglia. This condition can lead to various neurological and psychiatric symptoms. The exact mechanism of calcium deposition is not…