A genetic disorder causing developmental disabilities and nerve-related symptoms.

Angelman syndrome usually isn't detected until developmental delays become noticeable, usually when a baby is about six to 12 months old.

Symptoms include lack of crawling or babbling, minimal speech, and frequent smiling and laughter. Inability to walk, move, or balance well (ataxia) can also be symptoms.

Trial Details →

Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. In some cases, heart involvement (cardiomyopathy) is the first sign. BMD is caused by a genetic change in the DMD gene and is inherited in an X-linked recessive manner. BMD is very similar to Duchenne muscular dystrophy, except that in BMD, symptoms begin later and progress at a slower rate.

Trial Details →

An inherited disorder of progressive muscular weakness, typically in boys. Many people with muscular dystrophy have Duchenne syndrome. Girls can be carriers and mildly affected, but the disease typically affects boys. Symptoms include frequent falls, trouble getting up or running, waddling gait, big calves, and learning disabilities.

Trial Details →

Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness.

Trial Details →

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child's face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy).

Trial Details →

A genetic condition causing mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms. Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet.

Trial Details →

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is also part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

Trial Details →

Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body.

Trial Details →

MCT8-specific thyroid hormone cell transporter deficiency (MCT8 deficiency) is a genetic disorder characterized by severe intellectual disability, an impaired ability to speak, low muscle tone (hypotonia), disorganized movements and specific thyroid test abnormalities.

Trial Details →

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by genetic changes in the ARSA and PSAP genes.

Trial Details →

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare maternally inherited mitochondrial disorder that predominantly affects the nervous system and muscles. MELAS typically appears in childhood after a period of normal early development. This condition manifests with recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits in children or young adults, usually between the ages of 2 and 15.

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. Stroke-like episodes with temporary muscle weakness on one side of the body (hemiparesis) may also occur and this can lead to altered consciousness, vision and hearing loss, loss of motor skills and intellectual disability.

The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting.

MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1.

Trial Details →

Myotonic dystrophy type 1 (DM1) is the chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation.

Trial Details →

A headache of varying intensity, often accompanied by nausea and sensitivity to light and sound. Migraine headaches are sometimes preceded by warning symptoms. Triggers include hormonal changes, certain foods and drinks, stress, and exercise. Migraine headaches can cause throbbing in one particular area that can vary in intensity. Nausea and sensitivity to light and sound are also common symptoms.

Trial Details →

Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Loss-of-function mutations in PAH, the rate-limiting enzyme in phenylalanine (Phe) catabolism, lead to the neurotoxic accumulation of Phe. Toxic Phe concentrations cause intellectual disability (in children), cognitive impairment, psychiatric disease, attention deficit disorders, epilepsy, depression, anxiety, and behavioral problems (de Groot 2009).

Trial Details →

A genetic disorder that causes obesity, intellectual disability, and shortness in height. Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15 passed down by the father. The most common symptoms of Prader-Willi syndrome are behavior problems, intellectual disability, and short stature. Hormonal symptoms include delayed puberty and constant hunger leading to obesity.

Trial Details →

Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons — nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity, such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching.

Trial Details →

A nervous system disorder involving repetitive movements or unwanted sounds. Tourette syndrome starts in childhood. It involves uncontrollable repetitive movements or unwanted sounds (tics), such as repeatedly blinking the eyes, shrugging shoulders, or blurting out offensive words.

Trial Details →