Conditions

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. The affected gene is called ASPA, which provides instructions to make the enzyme aspartoacylase. This disease is more common in individuals with...

The word "cerebral" refers to the brain, and "palsy" to difficulty controlling movement. Cerebral palsy is neither progressive nor communicable. Although it is not curable, medical and therapy intervention can help. Depending on which part of the brain has been injured, different areas of the body...

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. The affected gene is called CYP27A1, which provides instructions for producing an enzyme called sterol 27-hydroxylase. Mutations in sterol 27...

These delays and disorders range from simple sound substitutions to the inability to understand or use language or use the oral-motor mechanism for functional speech and feeding. Some causes of speech and language disorders include hearing loss, neurological disorders, brain injury, intellectual...

Your brain is a soft organ that is surrounded by spinal fluid and protected by the hard skull. If your head or your body is hit hard, your brain can crash into your skull and be injured. The brain can also be injured if the soft brain gets stretched or shaken due to forces to the head or body. A...

The clinical course of the different congenital myopathies can vary from person to person. Unlike the muscular dystrophies, the natural history of the congenital myopathies is typically non-progressive or very slowly progressive. Multiple gene defects have been identified as causes of congenital...