Rare Disease Report

Five Rare Neurological Disorders

FEBRUARY 18, 2016
Rebekah Harrison

Creutzfeldt- Jakob Disease

Creutzfeldt-Jakob disease (CDJ) is caused by an infectious agent called prions that  results in rapid degeneration of the host’s brain tissue. There are 4 different types of CJD: Variant, caused by the consumption of food contaminated with prions; Sporatic is when the disease appears even though the person has no known risk factors for the disease and occurs in 85% of the cases of CJD; Familial, The other 15% of CJD cases; and finally Iatrogenic which is caused by the contaminated tissue of an effective person from a medical procedure.
 
Signs and symptoms include dementia, anxiety, depression, paranoia, obsessive compulsive disorder, psychosis, ataxia, involuntary movements, speech impairment, myoclonus and seizures. 
Mostvictim die within 6 months although some have been known to live 4-5 years.

Rett Syndrome

Rett syndrome is an extremely rare neurological disorder that affects the grey matter of the brain. It almost always exclusively affects females.
 
Signs and symptoms include microcephaly, repetitive hand movements, seizures, gastrointestinal disorders, no verbal skills, inability to walk, scoliosis and growth failure, ataxia, dystonia, screaming fits and sensory problems.

Many individuals with Rett syndrome continue to live well into middle age and beyond.  Because the disorder is rare, long-term prognosis and life expectancy is poorly understood.  

Batten Disease

Batten disease is a neurodegenerative disorder that begins in childhood. It is the juvenile form of neuronal ceroid lipofuscinosis, a family of disorders that result from excessive accumulation of lipopigments in tissues.
 
Signs and symptoms include vision problems, seizures, learning disabilities, echolalia, clumsiness, decreased body fat and muscle mass, hyperventilation and teeth grinding.
 
Eventually, children with Batten disease become blind, bedridden, demented and die. Batten disease is a terminal disease and life expectancy varies depending on the type or variation.

Bobble-head Doll Syndrome

Bobble-head doll syndrome is just like it sounds. Children, usually around age 3 begin to involuntarily bob their head and shoulders forward and back or side to side. The syndrome is related to cystic lesions and swelling in the third ventricle of the brain.
 
The syndrome is very rare that only 34 cases have ever been reported since 1966.
 
Signs and symptoms include 2 or 3 head bobs per second, ataxia and difficulty walking.

Cantu syndrome

Cantu syndrome is characterized by countless neurological symptoms with the main feature being excess hair growth (hypertrichosis) and a distinctive facial appearance. Other signs and symptoms include hypertrichosis, distinctive facial appearance, macrocephaly, epicanthal folds, macrosomia, subcutaneous fat, lymphedema, osteopenia, hypotonia and developmental delays.
 



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