myofibrillar myopathy 1

A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

Signs and symptoms

• Diarrhea
• Facial palsy
• Bulbar palsy
• Late-onset proximal muscle weakness
• Distal muscle weakness
• Constipation
• EMG: myopathic abnormalities
• Hyporeflexia of lower limbs
• Neck muscle weakness
• Third degree atrioventricular block

Also known as: autosomal recessive limb-girdle muscular dystrophy type 2R; desminopathy