G71.2

Approximate Synonyms

• Congenital anomaly of skeletal muscle

• Congenital hereditary muscular dystrophy

• Muscular dystrophy, congenital hereditary

• Myopathy, congenital

• Myopathy, myotubular

• Myotubular myopathy

• Walker warburg congenital muscular dystrophy

Clinical Information

• A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. Adams et al., Principles of Neurology, 6th ed, p1453)

• An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.

• An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. Adams et al., Principles of Neurology, 6th ed, p1452)

Details

• G71.2 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.

• The 2023 edition of ICD-10-CM G71.2 became effective on October 1, 2022.

• This is the American ICD-10-CM version of G71.2 – other international versions of ICD-10 G71.2 may differ.