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This autosomal-dominant condition is the most frequent cause of dopamine-responsive dystonia. [1] Mutations in the gene for tyrosine hydroxylase may lead to tyrosine hydroxylase deficiency, a rare form of dopamine-responsive dystonia inherited in an autosomal recessive manner. [ 2 ]
Other causes of similar symptoms that should be considered include seizure, stroke, concussion, low blood oxygen, low blood sugar, drug intoxication and some psychiatric disorders among others. [1] [9] Treatment depends on the underlying cause. [1]
The defining characteristic of BPT is a tilting of an infant's head in recurrent episodes, for varying periods of time. [1] [2] Furthermore, the child's trunk may bend in the same direction as the head, giving the baby an overall curved shape; this complaint is known as tortipelvis.
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
Gait abnormality is a deviation from normal walking ().Watching a patient walk is an important part of the neurological examination. Normal gait requires that many systems, including strength, sensation and coordination, function in an integrated fashion.
Marche à petits pas [maʁʃ a pəti pa] (“gait with little steps”) is a type of gait disorder characterised by an abnormal short stepped gait with upright stance (in strict sense, as opposed to generally stooping short-stepped gait of Parkinson's disease), seen in various neurological (or sometimes muscular) disorders.
Gait analysis is often used to describe gait abnormalities in children. [30] Gait training has been shown to improve walking speed in children and young adults with cerebral palsy. [18] Occupational therapy helps adults and children maximise their function, adapt to their limitations and live as independently as possible.
Stereotyped movements are common in infants and young children; if the child is not distressed by movements and daily activities are not impaired, diagnosis is not warranted. [1] When stereotyped behaviors cause significant impairment in functioning, an evaluation for stereotypic movement disorder is warranted.