Gastrointestinal symptoms in myotonic dystrophic type 2 patients

Myotonic Dystrophy type 2 (MD2) is a multisystem disease, described in 1994 as
Proximal Myotonic Myopathy (PROMM) (Ricker 1994). In 2001 the genetic defect on
chromosoom 3q21 was discovered (Liquori 2001). Like Myotonic Dystrophy type 1
(MD1), symptoms are progressive weakness, myotonia, cataracts en cardiac
arrithmia, and the inheritance is autosomal dominant (Moxley 1998).
Gastrointestinal dysfunction in MD1 has been described, and are common. In
daily clinic many MD2 patients mention gastrointestinal symptoms, which were
analysed by a questionairy. The results show indeed pyrosis, (60%), dysphagia
(32% fluid -, and 39% non- fluid food), abdominal pain (57%) en
constipation(62%) (ad 1: vragenlijst maag- en darmklachten). Gastro-intestinal
symptoms in MD2 are not described in literature, and earlier findings give rise
to new research in this field.

To objective the frequency and the severity of gastrointestinal dysfunction in
Myotonic Dystrophy type 2 patients.

All 27 MD2 patients who completed the questionary (bijlage 1) will be called by
telephone; to get informed about this project, and they will be asked to
participate. When they agree, information will be send to them (bijlage 3); a
week later they will be called again for participation. The study consists of a
venapunction, colon transit time measurement, and consultation by a speech
therapist, and will be planned on one single day. Patients will come to
hospital; after a short intake the three studies named above will take place.

The measurement of the colon transit time will be completed by X-abdomen;
exposure to radiation is low. If clinical symptoms demand extra research and
therapy will take place. The same day patients will be informed about the
results of the studies.
Complications of a venapunction can be: hematoma, bleeding, infection,
dizziness and an accidental arterial punction.
A consultion by a speech therapist has no risks; FEES-technique (Flexible
Endoscopic Evaluation of Swallowing) is minimal invasive. If necessary,
patients will be treated and get advices by the therapist.