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 | ||
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Fatigable weakness | 0003473 | |
| Frontalis muscle weakness |
Weakness of forehead muscle
|
0004661 |
| Intermittent episodes of respiratory insufficiency due to muscle weakness | 0004889 | |
| Neck muscle weakness |
Floppy neck
|
0000467 |
| Poor suck |
Poor sucking
|
0002033 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
|
Drooping upper eyelid
|
0000508 | |
| Sudden episodic apnea | 0002882 | |
| 30%-79% of people have these symptoms | ||
| Apneic episodes precipitated by illness, fatigue, stress | 0002872 | |
| Arthrogryposis multiplex congenita | 0002804 | |
| 0001251 | ||
| Bulbar palsy | 0001283 | |
| Central sleep apnea | 0010536 | |
| Choking episodes | 0030842 | |
| Cyanosis |
Blue discoloration of the skin
|
0000961 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Easy fatigability | 0003388 | |
| EMG: impaired neuromuscular transmission | 0100285 | |
| Episodic respiratory distress |
Episodic difficulty breathing
|
0004885 |
| Generalized muscle weakness | 0003324 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Muscle fiber atrophy |
Muscle fiber degeneration
|
0100295 |
| Nasal regurgitation | 0011469 | |
| Nasal speech |
Nasal voice
|
0001611 |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Spinal deformities | 0008443 | |
| 5%-29% of people have these symptoms | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Central |
0011398 | |
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
| Distal lower limb muscle weakness | 0009053 | |
| Dysphonia |
Inability to produce voice sounds
|
0001618 |
| EMG: myopathic abnormalities | 0003458 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Kyphoscoliosis | 0002751 | |
| Limb-girdle muscle weakness | 0003325 | |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Motor delay | 0001270 | |
| Narrow jaw |
Narrow lower face
Narrow lower jaw
[ more ]
|
0012801 |
| Pes cavus |
High-arched foot
|
0001761 |
| Poor head control | 0002421 | |
| 0001250 | ||
| Spinal rigidity |
Reduced spine movement
|
0003306 |
| Stridor | 0010307 | |
| Toe walking |
Toe-walking
|
0040083 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
| Weak cry | 0001612 | |
| 1%-4% of people have these symptoms | ||
|
Dislocated hip since birth
|
0001374 | |
| Diplopia |
Double vision
|
0000651 |
| 0002392 | ||
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Microretrognathia |
Small retruded chin
|
0000308 |
| Motor polyneuropathy | 0007178 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Obstructive sleep apnea | 0002870 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Respiratory arrest |
Breathing cessation
|
0005943 |
| Sensorineural hearing impairment | 0000407 | |
| Staring gaze | 0025401 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the |
Immunological abnormality
|
0002715 |
| 0000007 | ||
| Congenital onset |
Symptoms present at birth
|
0003577 |
| Decreased miniature endplate potentials | 0003402 | |
| EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 0003403 | |
| Generalized hypotonia due to defect at the neuromuscular junction | 0003397 | |
| Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Type 2 muscle fiber atrophy | 0003554 | |
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.
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.
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