Different Types of Muscular Dystrophies and Related Disorders

1. ZNF9 (Zinc Finger Protein 9)

Mutations in the ZNF9 gene are associated with a type of myotonic dystrophy. Similar to DM1 and DM2, it involves muscle weakness and myotonia, but it represents a distinct genetic cause.

2. BMD (Becker Muscular Dystrophy)

BMD is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene. It shares similarities with Duchenne Muscular Dystrophy (DMD) but generally has a later onset and milder progression.

3. MC-AD (Myotonia Congenita-Autosomal Dominant)

Myotonia Congenita with autosomal dominant inheritance is a form of myotonia characterized by muscle stiffness and difficulty relaxing muscles after contraction, usually without significant muscle weakness. It results from mutations in specific genes associated with ion channel function.

4. DMD (Duchenne Muscular Dystrophy)

DMD is an X-linked recessive disorder caused by mutations in the dystrophin gene. It leads to progressive muscle degeneration and weakness, typically starting in early childhood, and often results in loss of ambulation by adolescence.

5. TMD (Tibial Muscular Dystrophy)

TMD is a rare autosomal dominant form of muscular dystrophy characterized by weakness in the muscles of the tibial area, leading to difficulty walking. It is caused by mutations in the titin gene.