congenital myopathy 19

A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene o

A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.

Signs and symptoms

• Ptosis
• Axial hypotonia
• Gait disturbance
• Generalized hypotonia
• Motor delay
• Muscle weakness
• Skeletal muscle atrophy
• Dysphagia
• Scoliosis
• Respiratory insufficiency due to muscle weakness