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 | ||
| Nasal, dysarthic speech |
Breathy speech
|
0008376 |
| Progressive external ophthalmoplegia | 0000590 | |
| Progressive |
Progressive drooping of upper eyelid
|
0007838 |
| Weakness of facial musculature |
Decreased facial muscle strength
Decreased strength of facial muscles
Face weakness
Facial muscle weakness
Facial weakness
Reduced facial muscle strength
Weakness of face
[ more ]
|
0030319 |
| Weight loss | 0001824 | |
| 30%-79% of people have these symptoms | ||
| Abnormal morphology of musculature of pharynx | 0430015 | |
| Bowing of the vocal cords | 0008756 | |
| Difficulty in tongue movements | 0000183 | |
| Distal lower limb amyotrophy | 0008944 | |
| Distal upper limb amyotrophy | 0007149 | |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Impaired oropharyngeal swallow response | 0031162 | |
| Myopathic facies | 0002058 | |
| Oral-pharyngeal |
0200136 | |
| Progressive distal muscle weakness | 0009063 | |
| Recurrent aspiration pneumonia | 0002100 | |
| Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
| Vocal cord paresis |
Weakness of the vocal cords
|
0001604 |
| 5%-29% of people have these symptoms | ||
| Abnormality of masseter muscle | 3000005 | |
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Distal upper limb muscle weakness | 0008959 | |
| 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 |
| Fatigable weakness of bulbar muscles | 0030192 | |
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| Loss of ability to walk | 0006957 | |
| Progressive proximal muscle weakness | 0009073 | |
| Progressive sensorineural hearing impairment | 0000408 | |
| Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
| Sensorineural hearing impairment | 0000407 | |
| Tibialis muscle weakness | 0008963 | |
| 1%-4% of people have these symptoms | ||
| Abnormality of orbicularis oris muscle | 3000010 | |
| Paraplegia |
Leg paralysis
|
0010550 |
| Proximal muscle weakness in upper limbs | 0008997 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Aspiration | 0002835 | |
| Autophagic vacuoles | 0003736 | |
| 0000006 | ||
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
|
Difficulty articulating speech
|
0001260 | |
| Dysphagia |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 |
| EMG: myopathic abnormalities | 0003458 | |
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Facial palsy |
Bell's palsy
|
0010628 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Increased variability in muscle fiber diameter | 0003557 | |
| Nasal speech |
Nasal voice
|
0001611 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Ptosis |
Drooping upper eyelid
|
0000508 |
| Rimmed vacuoles | 0003805 | |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
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.
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.
