Facioscapulohumeral muscular dystrophy
ICD-10 G71.02 is a billable code used to indicate a diagnosis of facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive weakness and wasting of the muscles, particularly those of the face, shoulder blades, and upper arms. It is one of the most common forms of muscular dystrophy, affecting both males and females, typically beginning in adolescence or early adulthood. The condition is caused by a deletion of genetic material on chromosome 4, leading to the inappropriate expression of the DUX4 gene, which is toxic to muscle cells. Patients may present with facial weakness, difficulty raising the arms, and scapular winging. The progression of the disease can vary significantly among individuals, with some experiencing mild symptoms while others may face significant disability. Diagnosis is often confirmed through genetic testing, muscle biopsy, and clinical evaluation. Management focuses on physical therapy, occupational therapy, and supportive care to maintain function and quality of life.
Detailed neurological examination findings, genetic testing results, and progression notes.
Patients presenting with muscle weakness, facial asymmetry, or scapular winging.
Ensure comprehensive documentation of neurological assessments and any referrals to genetic counseling.
Therapy progress notes, functional assessments, and treatment plans.
Patients requiring rehabilitation for muscle weakness and mobility issues.
Document specific functional limitations and goals for therapy to support medical necessity.
Used for follow-up visits for patients with FSHD.
Detailed history, examination findings, and treatment plan.
Neurology specialists should document neurological assessments thoroughly.
FSHD is primarily caused by a deletion of genetic material on chromosome 4, leading to the inappropriate expression of the DUX4 gene, which is toxic to muscle cells.
