Spasmus nutans

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ORPHA:279882F98.4
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15Specialists8Treatment centers

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Overview

Spasmus nutans is a benign, self-limiting condition of infancy and early childhood characterized by a clinical triad of nystagmus (involuntary rhythmic eye movements), head nodding (titubation), and an abnormal head posture (torticollis). The nystagmus in spasmus nutans is typically asymmetric or unilateral, of small amplitude, high frequency, and may be intermittent. The head nodding is usually horizontal but can be vertical or rotatory. The condition primarily affects the ocular motor and neurological systems. Onset typically occurs between 4 months and 2 years of age, with most cases resolving spontaneously by 3 to 8 years of age. The exact cause of spasmus nutans remains unknown. It is considered a sporadic condition without a clear genetic basis. While the classic form of spasmus nutans is benign, it is critically important that clinicians distinguish it from conditions that can mimic its presentation, particularly optic pathway gliomas and other chiasmal or hypothalamic tumors, which can produce similar nystagmus patterns. For this reason, neuroimaging (typically MRI of the brain and orbits) is generally recommended in children presenting with features suggestive of spasmus nutans to rule out underlying structural pathology. Because spasmus nutans is a self-resolving condition, specific treatment is usually not required. Management focuses on careful clinical evaluation to exclude serious mimicking conditions, regular ophthalmologic follow-up to monitor visual development, and parental reassurance. In rare cases where significant amblyopia or strabismus develops in association with the nystagmus, standard ophthalmologic interventions may be considered. The long-term visual prognosis for children with true spasmus nutans is generally favorable.

Clinical phenotype terms— hover any for plain English:

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Spasmus nutans.

View clinical trials →

No actively recruiting trials found for Spasmus nutans at this time.

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Specialists

15 foundView all specialists →
LH
Lauren Hennein
SAN DIEGO, CA
Specialist
1 Spasmus nutans publication
RG
Ryan Gise
BOSTON, MA
Specialist
1 Spasmus nutans publication
AR
Aja Reinhold
Specialist
1 Spasmus nutans publication
FR
Francoise Roulez
Specialist
1 Spasmus nutans publication
AP
Anja Palmowski-Wolfe
Specialist
1 Spasmus nutans publication
MF
Marta Ferretti
Specialist
1 Spasmus nutans publication
TB
Tommaso Bellini
Specialist
1 Spasmus nutans publication
SS
Stefania Santaniello
Specialist
1 Spasmus nutans publication
GH
Gena Heidary
BOSTON, MA
Specialist
1 Spasmus nutans publication
EG
Eric D Gaier
BOSTON, MA
Specialist
1 Spasmus nutans publication
DW
Dongju Won
Specialist
1 Spasmus nutans publication
JC
Jong Rak Choi
Specialist
1 Spasmus nutans publication
TK
Tae Young Kim
Specialist
1 Spasmus nutans publication
SL
Seung-Tae Lee
Specialist
1 Spasmus nutans publication
JH
Jinu Han
Specialist
1 Spasmus nutans publication

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Spasmus nutans.

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Common questions about Spasmus nutans

What is Spasmus nutans?

Spasmus nutans is a benign, self-limiting condition of infancy and early childhood characterized by a clinical triad of nystagmus (involuntary rhythmic eye movements), head nodding (titubation), and an abnormal head posture (torticollis). The nystagmus in spasmus nutans is typically asymmetric or unilateral, of small amplitude, high frequency, and may be intermittent. The head nodding is usually horizontal but can be vertical or rotatory. The condition primarily affects the ocular motor and neurological systems. Onset typically occurs between 4 months and 2 years of age, with most cases resolv

How is Spasmus nutans inherited?

Spasmus nutans follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Spasmus nutans typically begin?

Typical onset of Spasmus nutans is infantile. Age of onset can vary across affected individuals.

Which specialists treat Spasmus nutans?

15 specialists and care centers treating Spasmus nutans are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.