Ocular Motor Apraxia

What Causes Ocular Motor Apraxia?

Scientists don’t know what causes OMA. The root cause may be genetic, but no specific gene or genes have yet been definitively identified as the cause of the disorder.

Some scientists believe that, in some cases, OMA may be caused by a condition or event that interferes with normal brain development early in pregnancy. Possible triggers for OMA include:

• Perinatal hypoxia (oxygen deprivation during birth)
• Meningitis
• Periventricular leukomalacia
• Cerebral palsy
• Septicemia
• Anemia
• Encephalitis
• Seizures

Is Ocular Motor Apraxia Hereditary?

Most cases of OMA appear not to be inherited. However, because there seems to be a genetic component to the disorder, it is possible that genetic risk for OMA could be inherited. However, scientists have not yet established a definite genetic link to the condition, so no predictable inheritance pattern is known.

OMA has been associated with many different brain-related disorders, and many of these disorders are inherited. In cases where OMA is associated with an inherited disease, the inheritance pattern will follow that of the underlying condition.

How Is Ocular Motor Apraxia Detected?

The early signs of OMA may go unnoticed or be dismissed as vision problems. However, an exam by an ophthalmologist will show no problems with the eyes themselves. The condition is uncommon, and many medical practitioners may be unfamiliar with its symptoms. Therefore, the risk of misdiagnosis is high.

How Is Ocular Motor Apraxia Diagnosed?

A doctor may suspect OMA if a baby exhibits the eye and head movements characteristic of the disorder. If this is the case, the doctor will conduct exams and tests to rule out other possible causes for the symptoms and confirm the OMA diagnosis. The diagnostic process may include:

• Physical exams and neurological exams to rule out other possible causes of the symptoms
• Ophthalmological exams to rule out disorders of the eyes that may cause the symptoms
• Magnetic resonance imaging (MRI) or computerized tomography (CT) to look for brain abnormalities that are sometimes associated with OMA

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

How Is Ocular Motor Apraxia Treated?

No treatment directly reverses the effects of OMA, but therapy programs may help manage the symptoms associated with the disorder. Commonly used therapies include:

• Physical therapy
• Occupational therapy
• Speech therapy
• Special education

Children with OMA should receive regular monitoring of their vision and eyes to spot problems that may emerge over time. Some doctors also recommend monitoring kidney function because kidney problems are associated with OMA in some cases.

How Does Ocular Motor Apraxia Progress?

OMA symptoms do not worsen over time, and the disorder’s characteristic head movements may improve as the child learns to compensate for the limitation of their eye movements.

How Is Ocular Motor Apraxia Prevented?

There is no known way to prevent OMA.

Ocular Motor Apraxia Caregiver Tips

Many people with OMA also suffer from other brain-related issues, a condition called co-morbidity. Here are a few of the disorders commonly associated with OMA:

• Agenesis of the corpus callosum
• Joubert syndrome
• Tay-Sachs disease
• Dandy-Walker syndrome
• Microcephaly
• Hydrocephalus
• Vermis hypoplasia
• Megalocephaly
• Krabbe leukodystrophy
• Pelizaeus-Merzbacher disease
• Infantile Refsum disease 
• Niemann-Pick type C disease
• Ataxia-telangiectasia
• Bardet-Biedl syndrome
• Vermis astrocytoma
• Vermis cyst
• Cornelia de Lange syndrome
• Wilson disease
• Microphthalmia

Ocular Motor Apraxia Brain Science

In some cases of OMA, MRI or other imaging scans of the brain show no abnormalities. However, in many cases, structural malformations are present. Some of the brain structure issues associated with OMA include:

• Underdevelopment of the corpus callosum, a structure that connects the two hemispheres of the brain
• Underdevelopment of the cerebellar vermis, a structure that connects the two halves of the cerebellum
• Lesions in the nerve cells (both gray and white matter) of the cerebrum

Ocular Motor Apraxia Research

Title: Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia (SCA02)

Stage: Completed

Principal investigator: Barbara Borroni, MD

Azienda Ospedaliera Spedali Civili

Brescia, Italy

Neurodegenerative cerebellar ataxias represent a group of disabling disorders that currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias. In this randomized, double-blind, sham-controlled study followed by an open-label phase, the investigators will evaluate whether a repetition of two-week treatment with cerebellar anodal tDCS and spinal cathodal tDCS, after a three months interval, may further outlast clinical improvement in patients with neurodegenerative cerebellar ataxia and can modulate cerebello-motor connectivity, at the short and long term.

Neurodegenerative cerebellar ataxias represent a heterogeneous group of disabling disorders in which progressive ataxia of gait, limb dysmetria, oculomotor deficits, dysarthria, and kinetic tremor are the prominent clinical manifestations. Both the hereditary and sporadic forms usually present in young adulthood and are characterized by atrophy of cerebellar or brainstem structures. Currently, cerebellar ataxia lacks effective disease-modifying therapies.

Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias. The present randomized, double-blind, sham-controlled study followed by an open-label phase will investigate a repetition of two-week treatment with cerebellar anodal tDCS and spinal cathodal tDCS, after a three months interval, may further outlast clinical improvement in patients with neurodegenerative cerebellar ataxia and can modulate cerebello-motor connectivity, at the short and long term. In addition, the investigators will evaluate if tDCS intervention might improve cerebellar cognitive-affective syndrome in patients with ataxia.

Title: Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford (CoRDS)

Stage: Recruiting

Sanford Health

Sioux Falls, SD

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for rare diseases. This program allows patients and researchers to connect as efficiently as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals, and researchers to assist in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:

• Contact information: Name, Mailing Address, Phone Number, Email Address
• Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
• Health information: Family History, Information related to Diagnosis

De-identified information in CoRDS will be made available to researchers if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher’s institution and (2) a panel of experts.

A subset of de-identified information collected from each profile may be shared with specific databases. This is done to help improve understanding of rare diseases, avoid duplication of efforts, and collaborate with existing research efforts with organizations dedicated to rare diseases.

Participants may elect to share their information with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.

The CoRDS Registry will not be paid by Researchers, Other Patient Registries, or Patient Advocacy Groups (PAGs) for access to information in CoRDS.

If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when they reach the age of 18 to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.

CoRDS contacts participants annually to confirm continued interest in participation in CoRDS and to request that participants update the information they have provided.