Orpha Number: 2596
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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Proximal amyotrophy |
Wasting of muscles near the body
|
0007126 |
| Skeletal myopathy | 0003756 | |
| Type I |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
| 30%-79% of people have these symptoms | ||
| Babinski sign | 0003487 | |
| Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
| Difficulty running | 0009046 | |
| Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ]
|
0003546 |
| Hyporeflexia of upper limbs | 0012391 | |
| Inability to walk | 0002540 | |
| Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
| Progressive proximal muscle weakness | 0009073 | |
| Shoulder girdle muscle weakness |
Weak shoulder muscles
|
0003547 |
| 5%-29% of people have these symptoms | ||
| Distal lower limb amyotrophy | 0008944 | |
|
Difficulty articulating speech
|
0001260 | |
| Frequent falls | 0002359 | |
|
IQ between 34 and 49
|
0002342 | |
| Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
| 0003749 | ||
| Peripheral axonal neuropathy | 0003477 | |
| Progressive cerebellar |
0002073 | |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Sternocleidomastoid amyotrophy | 0012036 | |
| Tip-toe gait |
Walking on tiptoes
|
0030051 |
| Weakness of orbicularis oculi muscle | 0012507 | |
| 1%-4% of people have these symptoms | ||
| Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ]
|
0001771 |
| Delirium | 0031258 | |
|
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
| Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
|
0002495 |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
| Schizophrenia | 0100753 | |
| Sensorineural hearing impairment | 0000407 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Ataxia | 0001251 | |
| Decreased activity of mitochondrial complex IV | 0008347 | |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| EMG: myopathic abnormalities | 0003458 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| 0001427 | ||
| Mitochondrial myopathy | 0003737 | |
| Motor delay | 0001270 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Ragged-red muscle fibers | 0003200 | |
| Type II diabetes mellitus |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
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.
