facioscapulohumeral muscular dystrophy 2

info · Genetic

A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.

Signs and symptoms

Scapular winging
Foot dorsiflexor weakness
Beevor's sign
Scapulohumeral muscular dystrophy
Hearing impairment
Facial palsy
Pelvic girdle muscle weakness

Also known as: FSHD2; facioscapulohumeral muscular dystrophy 1B; facioscapulohumeral muscular dystrophy type 2