Table 1

Clinical features and data of ancillary investigations of six patients with FSHD

Patient Age/sex Presenting symptoms Presenting signs Age at onset (y) Progression CK CT EMG Muscle biopsy EcoRI fragment size (kb)
132ME1-150 drop footFS1-150E1-150 30m2.5×T1-150E1-150C1-150 NNP30
257FT: walking difficultyFSHTC1-150 50m1.2×HTC1-150 NN26
355MC: inability to walk on toesFS1-150T1-150C50mNIS1-150T1-150C1-150 MNP20
480ME1-150: drop footS1-150H1-150E1-150 75m2.5×NPNPNP38
565ME: drop feetFS1-150H1-150E1-150 64m3.5×S1-150H1-150CE1-150 MNP33
640FS1-150: shoulder painS1-150H1-150 36mNINPMNP38
  • 1-150 Asymmetric; E=foot extensors; F=facial; S=shoulder; T=thigh; H=hip; C=calf; NP=not performed; NI=not increased; m=mild; M=myopathic (short duration MUAPs); N=neurogenic (fibrillations, positive sharp waves, long duration MUAPs).