Myotonic Dystrophy DM 1 A MultiSystem Condition Kirsten

Myotonic Dystrophy (DM 1) A Multi-System Condition Kirsten Patterson (Genetic Specialist Nurse) 24 th October 2018

Jacqueline Donachie Ø Scottish artist Ø Sister has myotonic dystrophy Ø Short film "Hazel, " which highlights several different sets of sisters like the Donachie’s. https: //vimeo. com/170772111

Classification Mild DM 1 (symptoms usually after 40 years) - cataracts and mild myotonia (sustained muscle contraction); life span is normal. Ø Classic DM 1 (symptoms 20 -40 years) - muscle weakness and wasting, myotonia, cataracts, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Ø Juvenile DM 1 (symptoms between birth and adolescence) – muscle hypotonia, tiredness after physical exercise. gastrointestinal problems and learning difficulties, will likely become physically disabled and may have a shortened life span. Ø Congenital DM 1 (symptoms at birth) - muscle hypotonia and severe generalized weakness, often with respiratory insufficiency and early death; learning disability is common. Ø

Muscles Ø Symptoms range from mild to severe. Ø Particularly involving face, jaw, neck, distal limb muscles. Ø Pain may be an issue. Ø Myotonia can lead to problems with grip. Ø Can affect speech and swallowing. Ø Can give a lack of facial expression Ø Referrals can include SLT, PT and OT.

Heart Ø May be involved even without symptoms Ø Annual ECG advised for early detection of conduction defects. Symptoms suggestive of cardiac arrhythmia: l Palpitations, syncope, blackouts, fainting, dizzy spells. Ø Referrals may include holter monitor (R test), Echo, Cardiology Consultant

Respiratory System Ø Chest infections may result from diaphragm weakness/ aspiration Ø Impaired ventilation (especially at night) Signs of nocturnal hypoventilation: Ø Morning headache, lethargy, disturbed sleep, noisy sleep (snoring) Ø Referrals may include to Respiratory consultant/ sleep clinic Flu and pneumonia vaccinations advised

Anaesthetic and Sedation Increased sensitivity to sedatives, inhaled anaesthetics and neuromuscular blockade Ø Essential for anaesthetist to be aware of diagnosis for risk assessment and post operative planning Ø Detailed anaesthetic guidance is available on the Scottish Muscle Network website www. smn. scot. nhs. uk Ø Alert card and Key Ring for all patients, as well as electronic alerts – Trak/ ACP/ KIS. Ø

GI/ Liver/ Endocrine Ø Constipation, diarrhoea, indigestion and abdominal pain are common but might need further assessment to rule out other causes. Ø LFTs may be abnormal – recommend further investigation – annual LFTs Ø Risk of Diabetes – annual Hb. A 1 c Ø Risk of Hypothyroidism – annual TFT Onward referral depends on symptoms

Cognition Ø Excessive day time sleepiness (CNS involvement) – Epworth Score Ø Apathy and lack of initiative Ø Executive function can become affected leading to greater difficulty in organising and performing routine activities (paying bills, keeping appointments, arranging schedules, etc. )

Epworth Score: Sitting reading: 0 Would never dose Watching TV: Sitting in a public place: 1 Slight chance of dozing 2 Moderate chance of dozing Passenger in car > 1 hour: Lying to rest in afternoon: Sitting and talking to someone: 3 High chance of dozing Sitting quietly after lunch (no alcohol): > 12 refer to sleep clinic In a car stopped for a few minutes in traffic:

Genetic Counselling – Autosomal dominant A parent with an autosomal dominant condition has a 50% chance of having a child with the condition. This is true for each pregnancy. Ø The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. Ø l Ø Anticipation A mother with DM 1 is more likely to have a baby with congenital DM.