Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but the lack of overall awareness and the need for a series of atypical procedures used to diagnose this condition pose a dilemma. Signs and symptoms
Cognitive problems
Intellectual disability: Delay in cognitive development
Extreme mood swings
Language delay

Motor problems
Dystonia: involuntary muscle contractions
Axial hypotonia: low muscle tone and strength
Dysarthria: impairment in muscles used for speech
Muscle stiffness and tremors
Seizures
Coordination and balance impairment
Oculogyric crises: abnormal rotation of the eyesThe oculogyric crises usually occur in the later half of the day and during these episodes patients undergo extreme agitation and irritability along with uncontrolled head and neck movements. Apart from the aforementioned symptoms, patients can also display parkinsonism, sleep disturbances, small head size (microcephaly), behavioral abnormalities, weakness, drooling, and gastrointestinal symptoms. Causes
This disorder occurs through a mutation in the SPR gene, which is responsible for encoding the sepiapterin reductase enzyme.
The bullying can result in decreased self-esteem. Language disorders
Language disorders are usually considered distinct from speech disorders, although they are often used synonymously. Speech disorders refer to problems in producing the sounds of speech or with the quality of voice, where language disorders are usually an impairment of either understanding words or being able to use words and do not have to do with speech production. See also
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