Foot and ankle in neuromuscular conditions and syndromes

In brief

Some neuromuscular conditions and genetic syndromes can affect the shape, stability and function of the feet and ankles during growth: cavus feet, flat feet, toe deformities, ankle instability, contractures or walking difficulties. Treatment is tailored to each child and coordinated with other specialists to improve function, make walking easier, relieve pain and preserve movement.

Typical age

From the first years of life to adolescence, depending on the underlying condition

Also known as

Neuromuscular foot · Neuromuscular cavus foot · Flatfoot associated with joint hypermobility · Foot in cerebral palsy · Foot in Charcot-Marie-Tooth disease · Foot problems in genetic syndromes

What is it?

The feet and ankles depend on the coordinated action of muscles, tendons, nerves, bones and ligaments. When a condition affects any of these, it can change the shape of the foot, its stability or the way a child walks. In childhood, these changes can evolve with growth and, in some cases, become more obvious over time.

The type of deformity depends on each condition and how it affects the muscles, nerves, joints and connective tissue. In some children the main problem is muscle weakness; in others it is increased muscle tone, joint hypermobility or abnormal bone development.

• In Charcot-Marie-Tooth disease, involvement of the peripheral nerves can cause muscle weakness, cavus foot, claw toes and ankle instability.
• In cerebral palsy, changes in muscle tone and movement control can lead to deformities such as equinus, valgus or varus foot.
• In some children with Down syndrome or Ehlers-Danlos syndrome, joint hypermobility and the features of the connective tissue can contribute to instability or flat feet.
• In Marfan syndrome, the features of the connective tissue and body proportions may be associated with changes in the arch and foot alignment.

Not all children with the same condition develop the same deformities or need treatment. Clinical importance depends on factors such as pain, progression, walking ability, balance, footwear and the impact on daily activities. So it is important to assess both the shape of the foot and how it works.

Follow-up during growth makes it possible to detect changes in alignment, muscle strength or ankle movement. Planning must take into account the underlying condition, how it may progress and each child’s particular needs.

Signs parents may notice

The features vary with the condition, but some common signs are:

• The arch looks too high or, on the contrary, the foot flattens and drifts outwards when standing.
• The ankles seem unstable or tilt inwards or outwards.
• The child walks on tiptoe or puts weight unevenly on the feet.
• There are repeated sprains, frequent tripping or falls.
• The toes curl, lift or become progressively deformed.
• Calluses or pressure areas appear, or it is hard to find comfortable shoes.
• The child gets tired walking, avoids long distances or stops taking part in some activities.
• There is pain in the feet, ankles or calves.
• Ankle movement is reduced, or it is hard to lift the front of the foot when walking.
• The shape of the foot changes progressively, or a growing difference appears between the two sides.

In some children the deformity is visible before any pain appears. So in conditions with a risk of progression, follow-up should not depend only on the child reporting discomfort.

When to see a specialist

An assessment by a paediatric orthopaedic surgeon is recommended when a child with a neuromuscular condition or genetic syndrome has pain, foot deformity, instability or changes in the way they walk. A preventive assessment can also be useful when the underlying condition carries a risk of progressive deformities.

It is worth seeing a specialist if:

• The shape of the foot changes progressively.
• Pain, calluses or pressure sores appear.
• The child has repeated sprains or falls often.
• The child walks on tiptoe, drags the front of the foot or has a persistent limp.
• The distance the child can walk decreases or they need more rests.
• The ankle loses movement or it is hard to place the foot in a functional position.
• Shoes or orthoses no longer fit properly.
• New walking difficulties appear, or previously acquired motor skills are lost.

When is it urgent?

An urgent assessment is needed if there is a sudden loss of strength, a new inability to walk, sudden severe pain, a very swollen or hot joint, or a wound with signs of infection. In children with reduced sensation, skin injuries can go unnoticed and should be checked with particular care.

How is it diagnosed?

Diagnosis combines the medical history, the musculoskeletal examination and an assessment of the underlying condition. The aim is to determine which structure is affected, how it affects walking and whether the deformity is flexible, rigid or progressive.

During the examination, the specialist assesses:

• Foot shape and alignment: arch, heel position, forefoot orientation and toe deformities.
• Ankle and foot movement: whether the foot can be placed in a functional position and whether there is muscle shortening or contracture.
• Strength and balance: the ability to lift the front of the foot, stand on tiptoe, walk on the heels where possible and stay stable.
• Walking: how the foot lands and pushes off, the presence of equinus, foot drop and compensations while walking.
• Skin and pressure points: looking for calluses, rubbing and injuries related to weight-bearing or the use of orthoses.
• Progress: comparing findings with earlier examinations to identify changes during growth.

Weight-bearing X-rays can help study the alignment of bones and joints. Depending on the clinical suspicion, other tests such as ultrasound, CT or MRI may be needed. In certain neuromuscular conditions, nerve conduction studies, electromyography or genetic testing are part of the work-up coordinated by the relevant specialists.

The assessment may require collaboration with paediatric neurology, rehabilitation, physiotherapy, clinical genetics and other specialties. Not every child needs all these tests: they are chosen according to the symptoms and the underlying condition.

Treatment

Treatment must be adapted to the condition, the type of deformity, its flexibility, the child’s age and their functional goals. It is not just about correcting the shape of the foot, but about achieving stable, comfortable weight-bearing, making walking easier and preventing complications.

Conservative treatment

1. Clinical monitoring

When the deformity is mild, flexible and causes no pain or limitation, regular check-ups may be enough. How often depends on the underlying condition and the risk of progression.

2. Physiotherapy and rehabilitation

Physiotherapy can help maintain movement, work on available muscle strength, improve balance and train more efficient walking. Exercises must be adapted to the child’s abilities and condition, avoiding programmes that cause excessive fatigue or overload.

3. Orthoses and walking aids

Orthoses can improve stability, keep the foot in a functional position and make getting around easier. For example, an ankle-foot orthosis may be used in some children with weakness lifting the front of the foot. In other cases, devices that control foot and ankle alignment can be helpful.

The choice depends on the deformity pattern, strength, movement and the child’s tolerance. An orthosis must be reviewed during growth to avoid rubbing, pressure points or unnecessary restriction of movement.

4. Footwear and skin care

Shoes should provide enough room and stability and be compatible with orthoses. It is important to check the skin regularly, especially when sensation is reduced or the child does not recognise pressure areas well.

5. Treatments specific to the underlying condition

In certain cases, the multidisciplinary team may recommend other treatments, such as spasticity management or specific rehabilitation programmes. The decision depends on the condition and the symptoms, and not every treatment is suitable for every child.

Surgical treatment

Surgery may be indicated when there is a significant, progressive or rigid deformity, persistent pain, walking difficulties, significant instability or problems using shoes and orthoses despite appropriate conservative treatment.

The technique is chosen according to the origin and features of the deformity. It may include:

• Tendon or muscle lengthening, when shortening limits movement.
• Tendon transfers, to improve muscle balance in selected cases of weakness.
• Osteotomies, which correct the orientation of one or more bones.
• Joint procedures, for rigid deformities or complex cases where other techniques do not provide adequate correction.

Not every procedure is suitable for every condition. For example, in a progressive neuromuscular condition it is important to consider how muscle strength may change in the future. In children with cerebral palsy, planning must also take into account muscle tone, contractures and walking goals.

Operations are usually performed under general anaesthesia and may require a hospital stay. The length of stay, immobilisation and the need to limit weight-bearing depend on the technique and the clinical situation. In complex cases, planning is coordinated with the multidisciplinary team.

The aim is not always a foot with a completely normal shape. Sometimes the priority is a plantigrade foot (one that rests properly on the ground) that is stable, comfortable and compatible with footwear and the child’s function.

Outlook and recovery

The outlook depends on the underlying condition, the type of deformity, muscle strength and whether the problem is stable or progressive. Some children keep good function for years with monitoring and orthoses; others need their treatment adapted as they grow.

• With conservative treatment: regular follow-up checks movement, alignment, the skin and walking function.
• After surgery: a cast or orthosis may be needed for several weeks. How long depends on the procedures performed and bone healing.
• Weight-bearing and walking: some operations allow weight-bearing from the start, while others require it to be limited for a time. Instructions are tailored to each child.
• Return to school: usually possible when the child can get around safely and mobility needs, transport and school activities have been adapted.
• Return to sport and physical activity: gradual, once recovery, strength and functional control allow, following the treating team’s advice.

Long-term follow-up is important because growth and the course of some conditions can change foot alignment or function. In certain cases orthoses may need adjusting or treatment may need reviewing.

Coordinated care between paediatric orthopaedics, neurology, rehabilitation, physiotherapy and other specialties makes it possible to adapt the goals to each child and maintain the best possible level of function throughout their development.

This page is for general information and does not replace an assessment by a specialist. If you are worried about your child's foot, talk to their paediatrician or book an appointment.