myofibrillar myopathy 8

A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive in

A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.

Signs and symptoms

• Limb muscle weakness
• Muscle weakness
• Hyporeflexia
• Myopathic facies
• Hypernasal speech
• Difficulty climbing stairs
• High palate
• Dysphagia
• Scapular winging
• Pes planus