Don’t fight Intermediate congenital nemaline myopathy alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 171433
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.
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.
The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!