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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. LBSL is a rare genetic disorder that affects the brain and spinal cord. The exact number of people with this condition is unknown, and many...
Pelizaeus-Merzbacher Disease
Males carry only one copy of the X chromosome, while females carry two copies. Therefore, this disease affects only males, while females are "carriers” and do not show any symptoms of PMD. However, female carriers are at higher risk for developing dementia and stiffness in the lower extremities...
Psychiatric Disorders
Examples, Subsets and Synonyms for Psychiatric Disorders: Adjustment Disorders Anxiety Disorders Impulse Control Disorder Mood Disorders Obsessive/Compulsive Disorders Oppositional-Defiant Disorder Panic Disorder Post-Traumatic Stress Disorder Phobias Additional Resources: The American Academy of...
Vanishing White Matter Disease
The parents of an individual with this disease usually each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Mutations in five different genes can result in VWM. Diagnosis: The classical form has onset during childhood years, with unsteady gait and muscle...
Adrenoleukodystrophy (ALD)
ALD is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath -- the fatty covering -- on nerve fibers in the brain. There are several forms of ALD. Onset of the classic childhood form, which is the most severe and affects only boys, may occur between...
Alexander Disease
These cases occur in people with no history of the disorder in their family. Rarely, an affected person inherits the mutation from one affected parent. The gene involved in this disease is referred to as GFAP, glial fibrillary acidic protein. Diagnosis: The infantile form begins before age 2, and...
Ataxia Telangiectasia (AT)
The first sign of the disease is usually the lack of balance and coordination, presenting during the first two or three years of life. The hallmarks of AT are ataxia (lack of muscle control) and other movement disorders, and telangiectasias (tiny, red "spider" veins), which appear in the corners of...
Attention-Deficit/Hyperactivity Disorder (ADHD)
These difficulties usually begin before the person is seven years old. However, these behaviors may be noticed earlier or may not be noticed until the child is older. Doctors do not know what causes ADHD. However, researchers who study the brain are coming closer to understanding what may cause ADHD...
Autism Spectrum and Pervasive Developmental Disorders
ASD includes autism, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger's syndrome. Each of these disorders has specific diagnostic criteria as outlined by the American Psychiatric Association (APA) in its Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR)...
Barth Syndrome
Barth syndrome is a rare, sex-linked genetic disorder of lipid metabolism that affects males. Typically, boys with Barth syndrome present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite and/or slow weight gain) at or within the first few months after birth.