autosomal dominant Charcot-Marie-Tooth disease type 2M

autosomal dominant Charcot-Marie-Tooth disease type 2M is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

CMT2M is characterized by congenital ptosis, early cataracts, and a mildly progressive peripheral neuropathy with variable onset. Symptoms may include pes cavus and reduced to absent ankle tendon reflexes. The condition is classified as very rare, and there are currently no orphan drugs under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced with peripheral neuropathies can also be beneficial.