Severe congenital nemaline myopathy
Alternate names
Severe congenital nemaline myopathy; Severe congenital (neonatal) NM
Definition
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases.
Cause
The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.
Inheritance
NM is transmitted in an autosomal recessive fashion or occurs sporadically.
Signs and symptoms
- Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive.
- Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency.
- Cardiomyopathy and arthrogryposis may occur.
- Survival after infancy is rare.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms
- Axial muscle weakness
- Breech presentation(Feet or buttocks of fetus positioned near opening of uterus)
- Decreased fetal movement(Less than 10 fetal movements in 12 hours)
- Dysphagia(Poor swallowing)
- Hypokinesia(Decreased muscle movement)
- Increased connective tissue
- Motor delay
- Multiple prenatal fractures(Multiple fractures present at birth)
- Nemaline bodies
- Polyhydramnios(High levels of amniotic fluid)
- Respiratory failure
- Severe muscular hypotonia(Severely decreased muscle tone)
- Skeletal muscle atrophy(Muscle degeneration)
- Type 1 muscle fiber predominance
5%-29% of people have these symptoms
- Abnormality of the diaphragm(Diaphragm issues)
- Adducted thumb(Inward turned thumb)
- Arthrogryposis multiplex congenita
- Edema of the dorsum of hands
- Facial diplegia
- Hypospadias
- Large fontanelles(Wide fontanelles)
- Low-set ears(Low set ears)
- Micropenis(Short penis)
- Ophthalmoplegia(Eye muscle paralysis)
- Premature birth(Premature delivery of affected infants)
- Pulmonary hypoplasia(Small lung)
- Thin ribs(Slender ribs)
Diagnosis
Treatment
NIH genetic and rare disease info
Severe congenital nemaline myopathy is a rare disease.
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