OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

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ORPHA:138112
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8Treatment centers

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Overview

This entry, previously known as 'Sucking/swallowing disorder associated with cerebellar anomalies,' is an obsolete (retired) classification in the Orphanet rare disease database. It was used to describe a condition in which newborns or infants had serious difficulty with sucking and swallowing, linked to abnormal development of the cerebellum — the part of the brain at the back of the head that helps coordinate movement. Babies with this condition struggled to feed properly because the brain signals needed for the complex actions of sucking and swallowing were not working correctly due to structural problems in the cerebellum. Because this classification is now obsolete, the patients who would have been described under this term are likely now categorized under more specific diagnoses. These may include various cerebellar malformations, pontocerebellar hypoplasias, or other congenital brain anomalies that cause feeding difficulties. If you or your child received this diagnosis in the past, it is important to speak with a clinical geneticist or pediatric neurologist to determine the current, more precise diagnosis that applies. A more specific diagnosis can help guide treatment, genetic counseling, and access to appropriate support services. Treatment for the underlying feeding difficulties typically involved supportive care such as specialized feeding techniques, nasogastric or gastrostomy tube feeding, speech and swallowing therapy, and close nutritional monitoring. Management of the cerebellar anomaly itself depended on the specific underlying condition.

Key symptoms:

Difficulty sucking during feedingDifficulty swallowing (dysphagia)Choking or gagging during feedsPoor weight gain or failure to thriveAspiration (food or liquid entering the lungs)Abnormal brain development affecting the cerebellumPoor muscle coordinationDelayed motor developmentLow muscle tone (floppiness)Breathing difficulties during feeding

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies.

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No actively recruiting trials found for OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies at this time.

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No specialists are currently listed for OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies.

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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 OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies.

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Community

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Latest news about OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Has this diagnosis been reclassified under a more specific condition, and if so, what is it?,What genetic testing should be done to find the exact cause?,Is tube feeding necessary, and if so, what type is best for my child?,What therapies are available to help improve my child's swallowing?,What are the signs of aspiration pneumonia that I should watch for?,What is the expected developmental outlook for my child?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

What is OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies?

This entry, previously known as 'Sucking/swallowing disorder associated with cerebellar anomalies,' is an obsolete (retired) classification in the Orphanet rare disease database. It was used to describe a condition in which newborns or infants had serious difficulty with sucking and swallowing, linked to abnormal development of the cerebellum — the part of the brain at the back of the head that helps coordinate movement. Babies with this condition struggled to feed properly because the brain signals needed for the complex actions of sucking and swallowing were not working correctly due to stru

At what age does OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies typically begin?

Typical onset of OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies is neonatal. Age of onset can vary across affected individuals.