congenital myopathy 21

info · Genetic

A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.

Signs and symptoms

Inguinal hernia
Dyspnea
Brain atrophy
Thin corpus callosum
Diaphragmatic weakness
Lipoid pneumonia
Intrauterine growth retardation
EMG: myopathic abnormalities
Elevated circulating creatine kinase activity
Spinal rigidity

Also known as: congenital myopathy 21 with early respiratory failure