This 2018 narrative review synthesizes the molecular genetics, pathomechanism, clinical features, and emerging treatment strategies for facioscapulohumeral muscular dystrophy (FSHD). It addresses how two genetically distinct subtypes converge on a single toxic mechanism and what therapeutic targets that convergence enables. Trial readiness infrastructure including outcome measures and biomarkers is also reviewed.
FSHD is the muscular dystrophy most likely to present to an orthopedic surgeon — scapular winging, foot drop, and truncal weakness drive surgical consultations before the diagnosis is made. When you see asymmetric scapular winging with facial weakness and a positive Beevor's sign, refer for genetic testing before offering any surgical intervention. The combination is nearly pathognomonic.
Scapular fixation is appropriate only in selected patients: preserved proximal strength AND demonstrated strength gain with manual scapular stabilization are both required. Operating without confirming these criteria risks functional loss.
Baseline spirometry (FVC) is indicated in all FSHD patients. Monitor serially if moderate-to-severe disease, truncal weakness, wheelchair dependence, or kyphoscoliosis is present. Cardiac monitoring is not routinely needed unless symptomatic.
No disease-modifying drug exists yet, but the field is moving fast. Understanding the DUX4 mechanism positions you to counsel patients accurately about the pipeline and why prior trials (prednisone, albuterol, myostatin inhibitors) have failed.
This 2018 narrative review synthesizes the molecular genetics, pathomechanism, clinical features, and emerging treatment strategies for facioscapulohumeral muscular dystrophy (FSHD). It addresses how two genetically distinct subtypes converge on a single toxic mechanism and what therapeutic targets that convergence enables. Trial readiness infrastructure including outcome measures and biomarkers is also reviewed.
FSHD is the muscular dystrophy most likely to present to an orthopedic surgeon — scapular winging, foot drop, and truncal weakness drive surgical consultations before the diagnosis is made. When you see asymmetric scapular winging with facial weakness and a positive Beevor's sign, refer for genetic testing before offering any surgical intervention. The combination is nearly pathognomonic.
Scapular fixation is appropriate only in selected patients: preserved proximal strength AND demonstrated strength gain with manual scapular stabilization are both required. Operating without confirming these criteria risks functional loss.
Baseline spirometry (FVC) is indicated in all FSHD patients. Monitor serially if moderate-to-severe disease, truncal weakness, wheelchair dependence, or kyphoscoliosis is present. Cardiac monitoring is not routinely needed unless symptomatic.
No disease-modifying drug exists yet, but the field is moving fast. Understanding the DUX4 mechanism positions you to counsel patients accurately about the pipeline and why prior trials (prednisone, albuterol, myostatin inhibitors) have failed.