G71.02
Facioscapulohumeral muscular dystrophy
Clinical Classification Guidelines
Inclusion Terms
- Scapulohumeral muscular dystrophy
Medical Intelligence & Overview
Facioscapulohumeral muscular dystrophy (FSHD), also known as scapulohumeral muscular dystrophy, is a genetic disorder characterized by progressive muscle weakness primarily affecting the face, shoulder blades, and upper arms. It is one of the most common types of muscular dystrophy and typically manifests in adolescence or early adulthood. The condition progresses gradually, leading to muscle wasting and weakness that can significantly impact daily life and mobility. While there is currently no cure, various management strategies help improve quality of life for individuals with FSHD.
Causes & Symptoms
Clinical Causes: Genetic mutations involving the D4Z4 DNA repeat on chromosome 4, leading to abnormal gene expression Inheritance patterns, primarily autosomal dominant, meaning only one copy of the altered gene can cause the disorder Family history indicating a hereditary predisposition No known environmental factors have been conclusively linked to the development of FSHD
Key Symptoms: Weakness in facial muscles, leading to a difficulty in smiling, whistling, or closing the eyes tightly Weakness in shoulder blades, causing difficulty in lifting the arms or maintaining good posture Difficulty raising the arms above shoulder level Weakness in upper arms and forearms, potentially impairing tasks requiring arm strength Progressive muscle wasting, resulting in a sagging appearance of the facial features and shoulders Asymmetrical muscle weakness, often affecting one side more than the other In some cases, weakness may extend to the lower limbs, affecting walking or mobility Possible hearing loss, due to involvement of certain muscles or nerves In rare instances, cardiac or respiratory muscle involvement
Diagnostic & Treatment
Diagnosis Path: Diagnosis of FSHD involves a combination of clinical evaluation and genetic testing. Medical professionals assess the patient for characteristic muscle weakness patterns and conduct physical examinations. Electromyography (EMG), which measures electrical activity in muscles, can help confirm muscle involvement. Genetic testing is the definitive method, detecting abnormal D4Z4 repeat contractions on chromosome 4. Imaging studies, such as MRI, may be used to evaluate muscle tissue and rule out other conditions. Family medical history also plays a crucial role in the diagnostic process.
Treatment Protocols: Physical therapy to strengthen unaffected muscles, improve flexibility, and prevent contractures Occupational therapy to assist with daily activities and recommend adaptive devices Speech therapy in cases of facial muscle weakness affecting speech or swallowing Pain management strategies for muscle discomfort Regular monitoring to assess progression and adjust care plans accordingly Surgical interventions for severe shoulder weakness or deformities, such as scapulothoracic stabilization Support groups and psychological counseling to cope with the emotional and social impacts of the disorder
Clinical Advice & FAQs
Billing Guidance
Is G71.02 a billable ICD-10 code?
Yes, G71.02 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report G71.02?
Clinical documentation must specify the nature of Facioscapulohumeral muscular dystrophy and any associated comorbidities for accurate reporting.
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