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Batten Disease
Condition

Batten Disease

Batten Disease, also known as Spielmeyer-Vogt-Sjogren-Batten disease, is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL, it has become the term which encompasses all forms of NCL.

Menkes Disease
Condition

Menkes Disease

Menkes disease, also known as Menkes syndrome, is a disorder caused by a mutation of the ATP7A gene. This gene affects how the body transports copper and maintains copper levels. Menkes disease usually causes low copper levels in blood plasma, the liver and the brain. It occurs mostly in male infants.

Epilepsy
Condition

Epilepsy

Epilepsy is a neurological condition involving the brain that makes people more susceptible to having recurrent unprovoked seizures. The two broad categories of epileptic seizures are generalized and partial seizures.

Emery-Dreifuss Muscular Dystrophy
Condition

Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy is a rare form of MD that affects only males. Symptoms may begin in childhood or adolescence. The condition causes slowly progressive weakness in the muscles of the shoulders, upper arms, and lower legs and joint stiffness.

Voiding Dysfunction
Condition

Voiding Dysfunction

If a child over the age of 4 has difficulties holding their urine (urinary incontinence) and physicians are unable to identify an anatomical or neurological cause, they may diagnose the child with voiding dysfunction.

Becker Muscular Dystrophy
Condition

Becker Muscular Dystrophy

Becker muscular dystrophy is the same basic disease as Duchenne muscular dystrophy, except it is less common and the symptoms are milder and slower to progress. It only affects males. Once symptoms begin, they follow a slower, but similar, course to that of Duchenne muscular dystrophy.

22q Deletion Syndrome
Condition

22q Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge Syndrome, is a condition where there is a small amount of genetic material missing (a microdeletion) on the long arm (the q arm) of chromosome 22. 22q has the potential to impact every system in the body and can lead to a range of health issues.

Dandy-Walker Syndrome
Condition

Dandy-Walker Syndrome

Dandy-Walker Syndrome (DWS) is a congenital condition where the cerebellum does not develop normally. The cerebellum is an area at the back of the brain that controls movement and balance. With DWS, parts of the cerebellum may never develop, may be very small, or may become filled with fluid.

Seizures and Epilepsy in Children
Condition

Seizures and Epilepsy in Children

A seizure occurs when part(s) of the brain receives a burst of abnormal electrical signals that temporarily interrupts normal electrical brain function.

Persisting Symptoms After Concussion
Condition

Persisting Symptoms After Concussion

Most children return to typical function in 3-4 weeks after a concussion. About one in four children can have symptoms that continue for a longer time. This is called Persisting Symptoms after Concussion, or Post-Concussion Syndrome.

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