Disease management

Current approaches

Management of Alexander disease focuses on alleviating symptoms and enhancing quality of life,^1,8,17 and ongoing research and a clinical trial are exploring potential disease-modifying therapies that target the underlying cause of the disease.^18,19Because of the rare nature of Alexander disease, there are a limited number of medical experts who specialize in confirming the diagnosis and developing a disease management plan, which means that affected people may need to travel long distances to consult with specialists.⁶⁶

Current approaches to disease management include therapies or devices to compensate for some of the physical (eg, seizures, dysphagia, mobility), speech (eg, dysphonia, dysarthria), and cognitive (eg, developmental delay, behavioral problems) difficulties experienced by people living with Alexander disease.^1,17

A black and white photo of a boy and a man on a beach leaning on a rock together with the boy’s shirt in red.

Images depicted are not actual patients.

NEUROLOGICAL MEDICATIONS

To manage seizures, muscle spasticity, dystonia, pain, and other neurological symptoms^1,17

NUTRITIONAL SUPPORT AND DIETARY MODIFICATIONS

To address feeding difficulties due to dysphagia and/or recurrent vomiting^17,23

Gastronomy tube

To ensure adequate nutrition, minimize aspiration risk, and administer medications for those with severe dysphagia¹⁷

RESPIRATORY Interventions

To address respiratory insufficiency, including infection prevention, airway maintenance, and mechanical support¹⁷

GI/URINARY Medications/interventions

To control reflux, vomiting, drooling, constipation, and urinary retention/incontinence^1,17

Augmentative and alternative communication strategies

To assist with communication impairments²³

Occupational Therapy

To assist those with physical, cognitive, and/or developmental impairments to maintain their ability to perform everyday tasks²³

Physical THERAPY

To improve range of motion and strength, preserve motor skills, and maximize mobility^17,23

Assistive Devices

To improve mobility, such as orthotics, braces, gait trainers, wheelchairs, walkers, lifts, and standers¹⁷

Sleep Hygiene Optimization

To address sleep disorders and appropriate interventions for sleep apnea¹⁷

Neuropsychological support

To address learning and cognitive development, and to develop a plan to optimize learning strategies²³

Orthopedic exams and interventions

To evaluate and treat scoliosis, hip dysplasia and dislocation, and low bone mass/fractures¹⁷

MULTIDISCIPLINARY TEAM

According to the 2015 GLIA consensus guidelines, the use of a collaborative multidisciplinary team of healthcare providers to address the range of clinical symptoms has the potential to improve care in people with leukodystrophies.⁶⁷ This team may include^1,17:

Primary care physicians
Palliative care specialists
Neurologists
Neurosurgeons
Feeding specialists
Gastroenterologists
Physical and occupational therapists
Geneticists
Urologists
Radiologists
Pulmonologists
Orthopedic surgeons
Speech-language pathologists
Social workers

The transition from pediatric to adult care may be especially challenging in individuals with rare disorders; the establishment of standard protocols for the management of transition may help to facilitate a seamless integration from child-centered to adult-centered care.⁶⁸