myofibrillar myopathy 13 with rimmed vacuoles

A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on

A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.

Signs and symptoms

• Type 2 muscle fiber atrophy
• Achilles tendon contracture
• Muscle fiber splitting
• Hearing impairment
• Difficulty climbing stairs
• Muscle spasm
• Brachioradialis hyporeflexia
• Fatty replacement of skeletal muscle
• Fiber type grouping
• Biceps hyporeflexia