To study the evolution of cognitive changes in DM1 during a five years period

Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder characterized by extreme clinical variability, affecting skeletal and heart muscles and CNS. Cerebral involvement in DM1 is characterized by variable cognitive impairment (i.e. executive, memory and visuoconstructive functions) and personality and behavioural dysfunctions. We consider that cognitive rehabilitation and physical therapy are attractive possibilities.

During a 5 years follow up 10 patients affected by DM1 were periodically followed in our centre. All patients were DM1 genetically confirmed  (age range was 18 – 75 years). All were assessed by psychological and neuropsychological tests. Neuromuscular evaluation was conducted using MIRS,brain MRI were performed. Patients were followed by standard care or during a six week rehabilitation protocol.

At baseline the most compromised functions were fronto-temporal such as executive-memory,  and visuo-constructive abilities. Agnosognosia was present in about 50 % at the baseline and at follow up.

We observed that patients improved their performance in different test at follow up when compared to the baseline, although no statistically significant, in verbal abilities (verbal fluencies and verbal memory) and non verbal fluid intelligence. We observed a worsening of performance in spatial memory abilities, such as recognition in the The Rey–Osterrieth complex figure test (ROCF) (p<0.05) and in recall  drawing test and working memory task (digit span memory test).

Our study demonstrates that the follow up of patients is useful in DM1 cases and in some patients there is a significant improvement of cognitive abilities.

This is different from other types of dementia and suggest several possibly strategies to treat patients such as social intervention and CBT training.

Our study suggest a variable evolution and differs from previous study that showed a predominant deterioration of cognitive performance in DM1.