Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions

Table 4 Current management strategies in congenital and childhood myotonic dystrophy type 1

Clinical problem	Management strategies
Muscle weakness
General	Exercise and physical therapy
	Possible drug therapy (DHEA, IGF-1, BP3, Creatinine use has shown possible benefits but this is not routinely done)
Talipes, foot drop, osteopenia, contractures	Orthopaedic surgery (e.g., tendon transfer, if required)
	Mobility aids
	Physiotherapy, ankle foot orthoses, splints
(Scoliosis, kyphosis)	Optimise vitamin D and calcium
	Physiotherapy, stretches and splints
Speech (dysarthria)	Orthopaedic surgery
Swallowing/feeding	Speech therapy
	Speech therapy
	Modification of food consistency
	Physiotherapy to enhance swallowing
Myotonia	Occupational therapy – adaptive devices
	Drug therapy (Mexiletine, anti-epileptics, amino acids, antidepressants)
Respiratory
Chest wall weakness and respiratory function	Regular surveillance screening with a symptom checklist including:
	Orthopnoea, dyspnoea with ADLs, sleep disturbances, morning headaches, apnoea, reduced cognition, EDS, fatigue, recent chest infections
	Respiratory function tests including
	Regular forced vital capacity, FEV1, pulse oximetry and peak expiratory cough flow
	Elective monitoring also includes mean inspiratory and
	expiratory pressures, and arterial blood gas analysis
	Imaging may include chest radiography or ultrasound for detection of motion abnormalities and
	thinning of diaphragm
	Nocturnal non-invasive ventilation: BiPAP or CPAP (in more obstructive cases)
Weak cough	CDM: Intubation and ventilation during neonatal period
Greater	Physiotherapy incorporating airway clearing techniques, manual assisted cough and postural drainage of secretions
Susceptibility to infections/recurrent infections	Antibiotics for management of acute infections
	Prophylactic vaccinations
	Respiratory physician consultation
	Prophylactic antibiotics
Cardiac
Conduction disorders	Annual surveillance with ECG and echocardiography
	Holter monitoring
	Pacemaker or defibrillator insertion if indicated
Sleep
Sleep related breathing disorders	Respiratory function testing
	Overnight pulse oximetry
	Polysomnography
	Non-invasive ventilation
Upper airway obstruction/apnoea	Total tonsillectomy or adenoidectomy may be beneficial
Periodic limb movements	Assessment of serum iron and ferritin
	Consider dopaminergic agents
Excessive daytime somnolence	Thorough assessment (questionnaires, actigraphy)
	Drug therapy/psychostimulants (Modafanil)
Hearing	Regular assessment
	Antibiotics for otitis media
	Grommets for recurrent otitis media
Gastrointestinal
Nutrition	Monitoring growth
	Assessment of micronutrients (e.g., iron and vitamin D) and supplementation as needed
	Dietician consultation
Irritable bowel syndrome type symptoms	Antibiotics to counteract bacterial overgrowth
Diarrhoea	Antibiotics (erythromycin)
	Drug therapy (cholestyramine)
Constipation	Stool softeners
	Laxatives/stimulating agents
	Regular toileting routine assisted by bulking agents and laxatives
Faecal incontinence	Cholestyramine
(Anal dilatation)	Colostomy (last resort)
Abdominal Pain	Pain medication (NSAIDs)
	Cholestyramine
Anaesthesia
Hypersensitivity with risk of respiratory depression	Detailed anaesthetic work up and assessment that may include ultrasound examination of gastric volume for risk of aspiration
	Establish airway: modified rapid induction, tracheal tube/supra-glottic device
Increased risk of intraoperative myotonia	Avoid opioid infusions and intravenous administrations
	Consider local anaesthetia as an alternative (Caudal, spinal and epidural)
	Extensive post-operative monitoring and support
	Paracetamol and NSAIDs
Poor oral health	Regular dental hygiene
	Regular visits to general and specialist dental clinics
	Good home care techniques: cleaning, plaque removal
Vision	Early and regular screening
	Prevention of amblyopia
	Early correction of hyperopia and astigmatism
Psychological
Cognitive deficits and mental retardation	Cognitive assessment
	Planning of appropriate education environment and support
Neuropsychiatric comorbidities	Psychotherapy, social skills training
(Attention deficit, personality disorders)	Drug therapy (e.g., stimulants for ADHD)
Social issues	Specialised school or special arrangements

DHEA: Dehydroepiandrosterone; IGF: Insulin-like growth factor; EDS: Excessive daytime sleepiness; BiPAP: Bi-level positive airway pressure; CPAP: Continuous positive airway pressure; CDM: Congenital myotonic dystrophy; NSAIDs: Non-steroidal anti-inflammatory drugs; BP3: Binding protein 3; ADL: Activities of daily living; FEV1: Forced expiratory volume in 1 s; ECG: Electrocardiogram; NSAIDS: Non-steroidal inflammatory drugs; ADHD: Attention deficit hyperactivity disorder.