Nemaline myopathy
ICD-10 G71.21 is a billable code used to indicate a diagnosis of nemaline myopathy.
Nemaline myopathy is a rare congenital myopathy characterized by muscle weakness and the presence of nemaline bodies in muscle fibers. It is caused by mutations in genes that are critical for muscle structure and function, leading to impaired muscle contraction. Patients typically present with hypotonia, muscle weakness, and delayed motor milestones. The severity of symptoms can vary widely, with some individuals experiencing mild weakness and others facing significant disability. Nemaline myopathy can affect any skeletal muscle, but proximal muscles are often more severely impacted. Diagnosis is confirmed through muscle biopsy, which reveals nemaline bodies, and genetic testing can identify specific mutations. Management focuses on supportive care, including physical therapy, respiratory support, and nutritional management, as there is currently no cure for the condition. The prognosis varies, with some individuals leading relatively normal lives while others may have significant limitations.
Detailed neurological examination findings, muscle biopsy results, and genetic testing outcomes.
Patients presenting with unexplained muscle weakness, hypotonia in infants, or progressive muscle weakness in adults.
Ensure comprehensive documentation of muscle strength testing and any associated symptoms.
Genetic testing results, family history of neuromuscular disorders, and detailed clinical assessments.
Patients with a family history of congenital myopathies or those with unexplained muscle weakness.
Document the specific genetic mutations identified and their implications for treatment.
Used to confirm diagnosis of nemaline myopathy through histological examination.
Pathology report detailing the presence of nemaline bodies.
Ensure the biopsy is performed by a qualified specialist and results are documented thoroughly.
Common symptoms include muscle weakness, hypotonia, delayed motor milestones, and respiratory difficulties. The severity of symptoms can vary widely among individuals.
Diagnosis is typically made through a combination of clinical evaluation, muscle biopsy showing nemaline bodies, and genetic testing to identify specific mutations.
