Signs and symptoms of the later-onset forms are extremely variable but may include muscle weakness and rigidity; walking difficulties; vision loss; intellectual regression; and/or seizures.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the thumb||
Abnormality of the thumbs
|Aplasia/Hypoplasia of the abdominal wall musculature||
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
|Global developmental delay||0001263|
|Sensorineural hearing impairment||0000407|
Loss of eyesight
|30%-79% of people have these symptoms|
|Generalized myoclonic seizures||0002123|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal flash visual evoked potentials||0007928|
|Decreased nerve conduction velocity||0000762|
Loss of developmental milestones
Mental deterioration in childhood
|Diffuse cerebral atrophy||0002506|
Increased body temperature, episodic
|Failure to thrive||
|Hyperactive deep tendon reflexes||0006801|
Progressive degeneration of movement
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.
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
WORLD Symposium 2010 (Lysosomal Disease Network's 6th Annual Research Meeting)
Wednesday, February 10, 2010 -
Friday, February 12, 2010
Location: Miami Hilton Downtown, Miami, Florida
Description: The specific aims of this meeting were to (1) emphasize the strategies for, and identify the obstacles to, moving from translational research to clinical trials; (2) coalesce members of the LD network into functional research collaborations and present to the LDN community progress on the specific projects that are part of the funded U54 RDCRN grant; (3) foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; (4) provide an educational forum for young investigators, clinicians, and researchers in the field; (5) identify and discuss the latest findings in the natural history of lysosomal diseases, diagnostic testing and screening, and treatment, with specific focus on (a) inflammatory components of lysosomal diseases and autophagy, especially in the central nervous system, (b) new treatments of the central nervous systems, and (c) ethics and efficacy in treating the presymptomatic or asymptomatic patient; and (6) identify areas requiring additional basic and clinical research and public policy and regulatory attention, such as ethics and economics, and factors that impact implementation of therapy, including newborn screening.
Contact: Dr. Danilo A. Tagle(301) email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is it possible to be a carrier of the disease and have some symptoms of it as well? See answer
Does Krabbe disease take place more often in a certain gender? Does it take place more often in a certain ethnic group? See answer
My little baby has Krabbe disease. Here in Italy, doctors give us no chance. Can you help us? See answer
If a couple has a child with Krabbe leukodystrophy, what is the likelihood of having another child with the condition? See answer