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Neurology

What Are the Early Symptoms of CMT1A in Children?

At a Glance

Early symptoms of CMT1A in children usually appear as subtle mobility issues, such as frequent tripping, foot drop, and delayed walking, followed by foot shape changes like high arches. If a parent has CMT1A, targeted genetic testing can confirm the diagnosis without painful nerve studies.

When a parent is diagnosed with Charcot-Marie-Tooth disease type 1A (CMT1A), it is natural to watch their children closely for early signs of the condition. CMT1A is a slowly progressive condition that affects the peripheral nerves, which control muscle movement and carry sensory information [1]. While symptoms can begin in infancy or early childhood, they may not become noticeable until adolescence or even later [2].

In children, the earliest symptoms usually appear as subtle changes in how they walk, move, or the shape of their feet [3]. Because these symptoms can be mild initially, they are often mistaken for normal developmental variations or “growing pains.” Unlike typical growing pains, CMT-related discomfort is often localized to the feet or calves and is frequently accompanied by tripping or muscle weakness.

Early Signs in Mobility and Gait

The first signs of CMT1A in children frequently involve the legs and feet. Because the disease affects nerve signals to the muscles, you may notice:

  • Delayed walking: While many children with CMT1A walk at a normal age, some may experience delays in reaching major motor milestones like crawling or walking independently [4].
  • Frequent tripping and clumsiness: A common early sign is tripping over flat surfaces. This happens because the muscles that lift the front of the foot weaken, making the foot drag slightly—a condition known as foot drop [5][1].
  • Walking on toes: Some children may display persistent toe-walking to compensate for weakness or tightness in their lower leg muscles [6].
  • Difficulty keeping up: You might notice your child gets tired easily, struggles with running, or has a hard time keeping up with peers during sports or play [7][8].

Changes in Foot Shape

As the muscles in the feet weaken unevenly, children with CMT1A often develop visible changes in the structure of their feet over the course of years. These foot deformities are classic signs of the condition [3]:

  • Pes cavus (high arches): The arches of the feet may slowly become unusually high [6][9].
  • Hammertoes: The toes may begin to curl downward at the middle joint, resembling a hammer.

Other Symptoms to Watch For

While motor symptoms (movement) are usually the most obvious, CMT1A also affects sensory nerves:

  • Sensory changes: Children might report numbness, tingling (“pins and needles”), or neuropathic pain (which often feels like a burning or shooting pain) in their feet [10][11].
  • Hand weakness: Although CMT1A typically affects the feet and legs first, children may eventually show difficulty with fine motor tasks, like buttoning a shirt or using zippers, due to hand weakness [7].

When to See a Doctor and Genetic Testing

If you notice these signs, or if you want to be proactive due to your own CMT1A diagnosis, it is important to consult a pediatric neurologist, a multidisciplinary neuromuscular clinic, or a pediatric orthopedist.

Because you have a known genetic mutation, doctors can often perform a targeted, non-invasive genetic test (using a blood or saliva sample) to see if your child has inherited CMT1A. This can definitively confirm the diagnosis and spare your child from potentially uncomfortable electrical nerve tests (nerve conduction studies). Notably, standard nerve tests can even appear normal in very young infants who have the condition, making early genetic confirmation highly valuable [2].

Early intervention, including physical therapy and bracing (such as custom orthotics), can help improve your child’s walking speed, stability, and overall mobility [12][13].

Common questions in this guide

What are the earliest physical signs of CMT1A in a child?
The earliest signs often involve the legs and feet. You may notice delayed walking, frequent tripping over flat surfaces, foot drop, or difficulty keeping up with other children during sports and play.
How does CMT1A affect a child's foot shape?
As the foot muscles weaken unevenly over time, children with CMT1A may slowly develop unusually high arches, known as pes cavus, or hammertoes, where the toes curl downward at the middle joint.
Does my child need a painful nerve test to diagnose CMT1A?
Not necessarily. If a parent has a known CMT1A genetic mutation, doctors can often perform a targeted, non-invasive genetic test using a simple blood or saliva sample to confirm the diagnosis in the child.
Should my child wear special shoes or braces for CMT1A?
Early intervention with custom orthotics or supportive bracing can help improve a child's walking speed, provide stability, and prevent frequent tripping. A pediatric physical therapist or orthopedist can recommend the right support for your child's specific needs.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific signs in my child's gait or foot shape indicate they might be developing CMT1A?
  2. 2.Should we do a targeted genetic test now given my diagnosis, or wait until my child begins showing symptoms?
  3. 3.Could you refer us to a multidisciplinary neuromuscular clinic or physical therapist experienced with pediatric CMT?
  4. 4.Are there specific custom orthotics or supportive shoes that can help prevent tripping and improve my child's mobility?
  5. 5.Are there daily stretching exercises we should do at home to help maintain their leg strength and flexibility?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (13)
  1. 1

    Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

    Klein CJ

    Continuum (Minneapolis, Minn.) 2020; (26(5)):1224-1256 doi:10.1212/CON.0000000000000927.

    PMID: 33003000
  2. 2

    Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.

    Davion JB, Cassim F, Péréon Y, Nguyen The Tich S

    Neurophysiologie clinique = Clinical neurophysiology 2022; (52(6)):482-485 doi:10.1016/j.neucli.2022.09.007.

    PMID: 36253232
  3. 3

    Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

    Sagnelli A, Scaioli V, Piscosquito G, et al.

    Neuromuscular disorders : NMD 2015; (25(10)):800-1.

    PMID: 26298608
  4. 4

    Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

    Mandarakas MR, Menezes MP, Rose KJ, et al.

    Brain : a journal of neurology 2018; (141(12)):3319-3330 doi:10.1093/brain/awy280.

    PMID: 30476010
  5. 5

    Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease.

    Millere E, Rots D, Simrén J, et al.

    European journal of neurology 2021; (28(3)):974-981 doi:10.1111/ene.14689.

    PMID: 33340200
  6. 6

    A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.

    Pomarino D, Rostásy KM, Fregien B, et al.

    Global medical genetics 2026; (13(1)):100081 doi:10.1016/j.gmg.2025.100081.

    PMID: 41551139
  7. 7

    The Easy Handgrip Test as a Tool for Assessing Motor Fatigability in Children With Charcot-Marie-Tooth Disease Type 1A.

    Estevam EDS, Martins EJ, Franco CSB, et al.

    Journal of the peripheral nervous system : JPNS 2025; (30(4)):e70061 doi:10.1111/jns.70061.

    PMID: 41042603
  8. 8

    Deterioration in gait and functional ambulation in children and adolescents with Charcot-Marie-Tooth disease over 12 months.

    Kennedy R, Carroll K, Paterson KL, et al.

    Neuromuscular disorders : NMD 2017; (27(7)):658-666 doi:10.1016/j.nmd.2017.04.005.

    PMID: 28495045
  9. 9

    The current status of Charcot-Marie-Tooth disease type 1 A treatment.

    Qi H, Wang X, Wu B, et al.

    Acta neurologica Belgica 2025; (125(6)):1525-1533 doi:10.1007/s13760-025-02881-1.

    PMID: 40864398
  10. 10

    Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A.

    Azevedo H, Costa H, Davidovich E, et al.

    Arquivos de neuro-psiquiatria 2021; (79(5)):415-419 doi:10.1590/0004-282X-ANP-2020-0132.

    PMID: 34037101
  11. 11

    Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.

    Thomas FP, Saporta MA, Attarian S, et al.

    Journal of clinical neuromuscular disease 2022; (24(1)):7-17 doi:10.1097/CND.0000000000000426.

    PMID: 36005469
  12. 12

    Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.

    Õunpuu S, Pierz KA, Acsadi G, Wren TAL

    Neuromuscular disorders : NMD 2020; (30(10)):825-832 doi:10.1016/j.nmd.2020.08.359.

    PMID: 32928646
  13. 13

    Orthopaedic shoes along with physical therapy was effective in Charcot-Marie-Tooth patient over 10 years.

    Bensoussan L, Jouvion A, Kerzoncuf M, et al.

    Prosthetics and orthotics international 2016; (40(5)):636-42 doi:10.1177/0309364615584657.

    PMID: 26015326

This page provides informational guidance on spotting early signs of CMT1A in children. It does not replace professional medical advice; always consult a pediatric neurologist or healthcare provider for an official diagnosis and treatment plan.

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