The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of color vision | Very frequent (present in 80%-99% of cases) |
| Ataxia | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Nystagmus | Very frequent (present in 80%-99% of cases) |
| Optic atrophy | Very frequent (present in 80%-99% of cases) |
| Spasticity | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Achilles tendon contracture | - |
| Adductor longus contractures | - |
| - | |
| Babinski sign | - |
| Cerebellar atrophy | - |
| Gait disturbance | - |
| Hamstring contractures | - |
| Hyperreflexia | - |
| Progressive spasticity | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
2011 Neurobiology of Disease in Children Symposium: Childhood Ataxia
Tuesday, October 25, 2011
Location:
Savannah,
GA
Description: The overall aims of this NDC symposia are to (1) review scientific advances and determine their relevance to current and future clinical practice in child neurology; (2) coordinate efforts among various clinical and basic science disciplines, lay organizations, and the NIH to review current research initiatives and define future directions; and (3) disseminate symposia proceedings to ensure that clinical and basic science disciplines are informed about scientific advances, current research initiatives, and future directions. NDC symposia have brought together clinicians, scientists, caregivers, and NIH program officers to determine how research findings can be translated to enhance clinical understanding and affect clinical practice.
Contact: Dr. Deborah Hirtz(301) 496-5821
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 -
Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909
Co-funding Institute(s): National Institute of Child Health and Human Development
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