Makindo Medical Notes

Related Subjects: |Autosomal Dominant |Autosomal Recessive |X Linked Recessive

About

• Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder characterized by progressive muscle weakness, primarily affecting the face, shoulder blades (scapula), and upper arms (humerus).
• It is inherited in an autosomal dominant pattern, caused by a mutation on Chromosome 4 (specifically involving the D4Z4 region).
• FSHD can present in childhood or adulthood, and the severity of symptoms can vary significantly between individuals.

Clinical Features

• Facial weakness: Patients often have difficulty whistling, smiling, or closing their eyes completely.
• Scapular winging on shoulder abduction due to weakness of the muscles that stabilize the scapula.
• Humeral muscle weakness, but the deltoid muscles are typically spared, which is a key feature in differentiating FSHD from other muscular dystrophies.
• Weakness can also affect the pelvic girdle, leading to difficulties with walking and balance.
• Patients may experience eye problems, including exudative retinopathy, a condition where fluid leaks into the retina.
• High-frequency sensory hearing loss is another feature commonly seen in patients with FSHD.
• Despite widespread muscle involvement, there is no associated cardiomyopathy, which distinguishes FSHD from other forms of muscular dystrophy.

Investigations

• Genetic analysis to confirm the diagnosis, particularly by identifying mutations on Chromosome 4.
• Mildly elevated creatine kinase (CK) levels, typically 2 to 7 times the normal range, reflecting muscle damage.
• Electromyography (EMG) typically shows a myopathic pattern, indicating muscle disease.

Management

• Physiotherapy and occupational therapy are essential to maintain muscle function, prevent contractures, and support mobility.
• Exudative retinopathy should be treated with photocoagulation to prevent further retinal damage and preserve vision.
• Hearing aids may be required for those experiencing significant hearing loss.
• Regular monitoring of muscle strength and functional ability to adjust treatment plans accordingly.
• Supportive interventions, such as braces or orthotics, may be needed to assist with walking and posture.