Intermediate congenital nemaline myopathy
Alternate names[edit | edit source]
Intermediate congenital NM; Intermediate nemaline myopathy
Definition[edit | edit source]
Intermediate nemaline myopathy is a type of nemaline myopathy that shows features of typical NM in neonates with a more severe progression.
Epidemiology[edit | edit source]
The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.
Cause[edit | edit source]
The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM.
Inheritance[edit | edit source]
The transmission pattern of the disease is autosomal recessive or dominant.
Signs and symptoms[edit | edit source]
- Neonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years.
- Children often develop joint contractures.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Generalized muscle weakness
- Nemaline bodies
- Severe muscular hypotonia(Severely decreased muscle tone)
30%-79% of people have these symptoms
- Abnormal thorax morphology(Abnormality of the chest)
- Decreased fetal movement(Less than 10 fetal movements in 12 hours)
- Difficulty walking(Difficulty in walking)
- Dysphagia(Poor swallowing)
- EMG: myopathic abnormalities
- Hypokinesia(Decreased muscle movement)
- Hyporeflexia(Decreased reflex response)
- Motor delay
- Multiple prenatal fractures(Multiple fractures present at birth)
- Myopathic facies
- Polyhydramnios(High levels of amniotic fluid)
- Respiratory failure
- Skeletal muscle atrophy(Muscle degeneration)
- Type 1 muscle fiber predominance
5%-29% of people have these symptoms
- Areflexia(Absent tendon reflexes)
- Facial diplegia
- High, narrow palate(Narrow, high-arched roof of mouth)
- Hypertelorism(Wide-set eyes)
- Long philtrum
- Low-set ears(Low set ears)
- Ophthalmoplegia(Eye muscle paralysis)
- Premature birth(Premature delivery of affected infants)
1%-4% of people have these symptoms
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Intermediate congenital nemaline myopathy is a rare disease.
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