Most leukodystrophies will have some effect on mobility, to varying degrees and over varying periods of time. They can affect coordination, balance and ability to walk unaided, and some leukodystrophies eventually result in complete loss of mobility. Infants with some leukodystrophies may fail to develop motor skills such as the ability to sit unsupported or to control head movements.
Ataxia is a term for a group of disorders affecting balance, coordination and speech. Leukodystrophies are one of many possible causes of ataxia.
Low muscle tone (hypotonia)
Low muscle tone, known as hypotonia, occurs in many leukodystrophies. It most commonly occurs in infants, often before they reach 6 months old. Infants with this condition are described as “floppy” or limp. This may lead to difficulties with sucking or swallowing, and delays in meeting milestones such as sitting up, crawling and walking. Adults and older children may also suffer from hypotonia, which can show up as clumsiness, difficulties in lifting or reaching for objects, frequent falls and difficulties in getting up. Physiotherapy, occupational therapy and speech therapy may help manage the effects of hypotonia.
Hypertonia and spasticity
With hypertonia, the affected person has too much muscle tone, i.e. the muscles are too contracted. This makes the affected parts of the body stiff and difficult to move.
In some cases, hypotonia is followed by a dramatic increase in muscle tone, hypertonia, causing muscles to strongly contract in a fixed position. This causes stiffness, making movement difficult.
Spasticity is a type of hypertonia in which affected muscles undergo prolonged periods of contraction that are increased by movement. The effects range from tightness and stiffness to painful muscle contractions known as spasms. Spasticity can make physical activities difficult, from walking to picking up objects. In severe cases the muscle can become locked in one position; this is called a contracture. Early treatment can help to prevent contractures and there are a range of treatments available, including physiotherapy, medications, injections and surgery. Regular stretching as directed by physiotherapy is the mainstay of treatment.
Foot drop is a common early sign of mobility issues. Damage to the muscles and/or nerves that lift the front part of the foot cause the toes to drag on the ground when walking. This makes walking difficult and increases the risk of falls. Physiotherapy may help, and there are also supports available such as an ankle-foot brace (orthosis) to hold the foot in a strengthened position. Speak to an orthotics team to find out about braces, splints and other supports. If these methods prove ineffective, electrical nerve stimulation or surgery are further options.
When combined with limited ankle motion, this is called equinus.
Bone and skeletal problems
Mobility can also be affected by problems with bones, from poor bone development to osteoporosis (weak, brittle bones which are prone to fracture). Osteoporosis or low bone density (osteopenia) can affect people with Coats plus Syndrome, Nasu-Hakola Disease or Peroxisome Biogenesis Disorder.
Sideways curvature of the spine, known as scoliosis, can be a symptom of some leukodystrophies. Scoliosis can appear as visible sideways curvature of the spine, a lean to one side, uneven shoulders or hips, or shoulders or ribs sticking out on one side. Scoliosis usually starts in childhood or adolescence but can develop in adults. It does not always cause problems, and treatment may not be necessary. More severely affected children and adolescents may need to wear a back brace while they are growing, and in a few cases surgery may be needed.
Treating and living with mobility problems
For many of the symptoms which affect mobility, physiotherapy may be suggested as a means of relieving or slowing progression of symptoms. Physiotherapy will not be successful for everyone, and should be considered in light of the affected person’s capacity and pain levels. Alternative or complementary therapies may also be suggested; some people find these helpful but they should be used alongside, not instead of, care from medical professionals.
As difficulties with mobility progress, walking aids may be needed. Using a stick or other walking aid can be a good idea to help reduce the risk of falls. Contact Orthotics if splints or braces are required, and Wheelchair services when a chair becomes a consideration. There is a wide range of equipment available to help with mobility: see our mobility equipment page for further information.
Caring for people with severe mobility difficulties, particularly adults and older children, can be physically and mentally challenging. You may be eligible for additional support if you care for someone who is severely disabled; see our care page for more information. Respite services are also available, and are a valuable resource to help you to look after an affected loved one. Occupational therapy can help with adaptations to your home and routine to make the lives of people with severe disabilities and their carers easier.