Combination of myotonic dystrophy and hereditary motor and sensory neuropathy

Peripheral neuropathy in patients with myotonic dystrophy type 2

“…Although he presented positive sensory symptoms, we excluded acquired causes of polyneuropathy. Charcot‐Marie‐Tooth type 1A was excluded as well, according to the reported studies with DM1 and hereditary motor and sensory neuropathies . The second form of uncommon polyneuropathy in DM is ulcerative neuropathy.…”

Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

“…Sometimes, the combination of two different entities results in a more severe phenotype [9,[13][14][15][16][17]. In other occasions, in contrast, multiple mutations may be associated with milder phenotypes [8,18]. The case here reported represents a different scenario in which an unexpected finding has concluded with the diagnosis of two different entities, although the clinical manifestations correspond only to one of the conditions (SMA).…”

“…A limited number of families have been reported to be affected by both CMT1A and a second neurologic/neuromuscular condition such as facioscapulohumeral muscular dystrophy , X‐linked Charcot‐Marie‐Tooth , myotonic muscular dystrophy , or Duchenne muscular dystrophy .…”