Evaluation of infantile dystonia

Overview 
Theory 
Emergencies 
Diagnosis 
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Last reviewed: 11 Sep 2025

Last updated: 04 Jul 2025

Dystonia is a hyperkinetic movement disorder described as contraction of both agonist and antagonist muscles simultaneously, causing twisting and repetitive movements or abnormal postures.[1] It can be confused with other abnormal movement disorders such as parkinsonism, tremor, chorea, myoclonus, tics, and stereotypies; mistaken for tonic seizures; or coexist with other features as part of a complex movement disorder. The earlier the age of onset, the more generalized and severe the condition tends to be.

The first priority in the evaluation of an infant with dystonia is to establish whether the patient has a condition needing urgent intervention. Several metabolic disorders fall into this category, so clinical biochemical tests may need to be done as part of the initial testing even if other genetic testing is being considered. See Urgent considerations.

Molecular genetic testing is important and clinically useful in infantile dystonia due to its high yield of genetic diagnoses and medically actionable information. Next-generation sequencing tests such as gene panels and exome sequencing reveal the diagnosis in up to 60% of patients with infantile-onset dystonias.[2][3] However, thorough clinical evaluation beyond the dystonia itself is crucial to achieve this diagnostic rate. Phenotypic features from the history, family history, and physical exam help narrow the differential diagnosis, allow selection of the most appropriate genetic tests, and improve the interpretation of genetic testing results.

Dystonic movements

Dystonic movements are patterned and sustained. They repeatedly involve the same muscle groups. The urge to perform the dystonic movements is absent, and there is no relief after the dystonic movements are executed. Dystonia usually gets worse with fatigue and emotional stress and it gets better with sleep and relaxation.[4][5] Photographs and video footage of affected infants are helpful in delineating the dystonic movements. Periodic follow-up is often a prerequisite to making an accurate diagnosis.

Types of infantile dystonia

In the classification of dystonias, the term infantile refers to onset from birth to 2 years of age.[6] Dystonias are described according to two complementary axes:[6][7]

Clinical characteristics (axis 1), which include age at onset, body distribution, temporal pattern, and associated features
Etiology (axis 2), which includes nervous system pathology and inheritance.

Information from the history and physical examination allows an initial classification and differential diagnosis to be made. The presence and absence of motor features and other signs and symptoms can narrow the differential diagnosis by indicating a particular dystonia syndrome and by directing the diagnostic evaluation toward groups of disorders associated with different clinical patterns, such as:

Isolated dystonia (dystonia alone or dystonia with tremor)
Combined dystonia (dystonia with other movement disorders)
Complex dystonia (dystonia with other symptoms).

The clinical evaluation may also indicate whether the condition is neurodegenerative or suggest an acquired or inherited etiology.

Further investigations may be required including neuroimaging, evaluation for associated neurodevelopmental or systemic abnormalities, therapeutic trial of levodopa, or biochemical (including diagnostic lumbar puncture) and genetic tests.

Several pseudodystonias need to be considered in the differential diagnosis; these conditions involve dystonia-mimicking abnormal movements, but their etiologies differ from those of dystonias.

The rapid identification of several conditions is important to prevent irreversible injury or death:

Drug-induced acquired dystonia
Pseudodystonia due to cervical instability
Status dystonicus
Multiple neurometabolic disorders, such as glutaric aciduria type I
Acute bilirubin encephalopathy.

Many metabolic disorders present in infancy, and are high on the list of likely differential diagnoses in the first year of life.[6][8]

Dopa-responsive dystonia (Segawa syndrome, dystonia-parkinsonism with diurnal fluctuation) needs to be considered in any infant or child with unknown diagnosis and normal magnetic resonance imaging. It is usually misdiagnosed as spastic diplegic or quadriplegic cerebral palsy, intractable epilepsy, or hereditary spastic paraplegia.[9][10]

დიფერენციული დიაგნოზები

ხშირი

Transient idiopathic dystonia of infancy
Benign paroxysmal torticollis of infancy
Congenital torticollis
Primary paroxysmal kinesigenic dyskinesia (PKD)
Drug-related dystonia
Dyskinetic cerebral palsy
Post-traumatic dystonia
Nonfatal drowning
Primary stereotypies
Secondary stereotypies
Secondary infantile torticollis (SIT)
Seizure

სრული ტექსტი

იშვიათია

Primary paroxysmal nonkinesigenic dyskinesia (PNKD)
Alternating hemiplegia of childhood (AHC)
DYT-TOR1A (primary torsion dystonia)
Dopa-responsive dystonia (Segawa syndrome, dystonia-parkinsonism with diurnal fluctuation)
Paroxysmal exercise-induced dyskinesia glucose transporter 1 (GLUT1)
Dopamine transporter deficiency syndrome (DYT/PARK-SLC6A3, infantile parkinsonism-dystonia)
Kernicterus
Glutaric aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency)
Methylmalonic acidemia
Lesch-Nyhan syndrome
Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff disease)
Mitochondrial encephalomyopathies
Biotin-thiamine-responsive basal ganglia disease (DYT-SLC19A3)
Dopamine-serotonin vesicular transport disease
Acquired paroxysmal kinesigenic dyskinesia (PKD)
Acquired paroxysmal nonkinesigenic dyskinesia (PNKD)
Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN)
Leukodystrophies/hypomyelinating disorders
Aicardi-Goutieres syndrome (AGS)

სრული ტექსტი

კონტრიბუტორები

ავტორები

Kenneth Silver, MD, MSc

Pediatric Neurologist

Shriners Children’s Chicago

Chicago

გაფრთხილება:

KS is an author of a reference cited in this topic and is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a nonprofit organization.

Sho Yano, MD, PhD

Pediatric Neurologist

Medical Geneticist

Bethesda

გაფრთხილება:

SY is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a nonprofit organization.

მადლიერება

The authors wish to acknowledge the contribution of Muruvet Elkay, MD to this topic.

გაფრთხილება:

ME declares that she has no competing interests.

რეცენზენტები

Suman Ghosh, MD, MPA

Associate Professor of Pediatrics

University of Florida

Gainesville

გაფრთხილება:

SG declares that he has no competing interests.

Joanna Blackburn, MD

Assistant Professor

Pediatrics (Neurology and Epilepsy)

Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago

გაფრთხილება:

JB declares that she has no competing interests.

John Mink, MD, PhD

Associate Professor

Neurobiology, Anatomy and Pediatrics

University of Rochester

Strong Memorial Hospital

Rochester

გაფრთხილება:

JM is an author of a number of references cited in this topic.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

წყაროები

ჩვენი მტკიცებულებებისა და სარედაქციო ჯგუფები თანამშრომლობენ საერთაშორისო ექსპერტებსა და რეცენზენტებთან, რათა უზრუნველვყოთ თქვენი წვდომა კლინიკურად ყველაზე მნიშვნელოვან ინფორმაციაზე.

ძირითადი სტატიები

van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81.სრული ტექსტი აბსტრაქტი

American Academy for Cerebral Palsy and Developmental Medicine. Cerebral palsy and dystonia. Apr 2024 [internet publication].სრული ტექსტი

გამოყენებული სტატიები

ამ თემაში მოხსენიებული წყაროების სრული სია ხელმისაწვდომია მომხმარებლებისთვის, რომლებსაც აქვთ წვდომა BMJ Best Practice-ის ყველა ნაწილზე.

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

ამ მასალის გამოყენება ექვემდებარება ჩვენს განცხადებას

Evaluation of infantile dystonia

Summary

Dystonic movements

Types of infantile dystonia

დიფერენციული დიაგნოზები

ხშირი

იშვიათია

კონტრიბუტორები

ავტორები

Kenneth Silver, MD, MSc

გაფრთხილება:

Sho Yano, MD, PhD

გაფრთხილება:

მადლიერება

გაფრთხილება:

რეცენზენტები

Suman Ghosh, MD, MPA

გაფრთხილება:

Joanna Blackburn, MD

გაფრთხილება:

John Mink, MD, PhD

გაფრთხილება:

Peer reviewer acknowledgements

Disclosures

წყაროები

ძირითადი სტატიები

გამოყენებული სტატიები

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში ან გამოიწერეთ BMJ Best Practice

შედით სისტემაში BMJ Best Practice-ის მასალებზე სრული წვდომისთვის