Infantile FSHD is the name given to FSHD that manifests early in life when weakness is evident in childhood or infancy. This is also called early onset FSHD or paediatric FSHD. Infantile FSHD is a much rarer condition than the adult onset FSHD.
Infantile FSHD tends to be more severe compared to the adult condition. Many children with the condition experience a faster and more severe decline in muscle function. Hearing and sight complications are also more prevalent.
While much is known about the adult form of FSHD the infantile form is less well known. FSHD Global supports a multinational trial into infantile FSHD being conducted through the cooperative international neuromuscular research group. This trial is characterising infantile FSHD and following a group of children through time in order to better understand how and why the infant form of FHSD differs from the adult form. The trial is also identifying potential targets for drug discovery. For more information on the results of this trial please see our page dedicated to this study.