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Disease Profile
Congenital myasthenic syndrome with episodic apnea
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CMS-EA; Myasthenic syndrome congenital associated with episodic apnea; Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea;
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Symptoms
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
|
Learn moreThese 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. Where to Start
In-Depth Information
Selected Full-Text Journal Articles
Rare Neurology News |