Rare Disease Library

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Myotonic dystrophy

Myotonic dystrophy type 3

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Severe early-childhood-onset retinal dystrophy

EOSRD · Early-onset severe retinal dystrophy

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease