Symptoms and Warning Signs

As your child grows, Andermann syndrome typically follows common patterns of physical changes. While every child’s journey is unique, understanding the typical progression—and knowing which signs require immediate medical attention—can help you feel more prepared and in control of your child’s care.

Early Physical Signs in Infancy

In the first months of life, a common early sign of Andermann syndrome is infantile hypotonia, or low muscle tone ^[1][2]. You may notice your baby feels “floppy” when held or has difficulty reaching early milestones like holding their head up or rolling over.

During early check-ups, doctors often look for areflexia, which is the absence of normal deep tendon reflexes (the “automatic” movements that happen when a doctor taps a joint) ^[1]. This happens because the syndrome affects the peripheral nerves, the “wiring” that connects the brain and spinal cord to the muscles. When these nerves cannot send signals effectively, the muscles do not receive the instructions they need to stay strong or react quickly.

Physical Progression and Movement

As children with Andermann syndrome get older, the sensorimotor neuropathy (damage to both movement and sensation nerves) usually continues to progress.

• Muscle Atrophy: You may notice atrophy, a visible thinning or wasting of the muscles, particularly in the legs and feet ^[1].
• Locomotor Issues: Walking often becomes more difficult over time. While some children walk independently for many years, many will eventually require assistive devices like braces or a wheelchair to stay mobile ^[1][3].
• Sensory Changes: Because the nerves that send “feeling” signals are also affected, your child may have a decreased ability to feel touch, pain, or temperature in their limbs ^[4]. This lack of sensation requires careful, daily skin checks. Hot water, heating pads, or tight shoes can cause severe burns or pressure injuries without your child feeling pain.

Cognitive and Intellectual Development

Some children with Andermann syndrome experience some degree of intellectual disability or cognitive impairment ^[1]. However, this varies significantly from one child to another. Some may have mild learning challenges or even near-normal intellect, while others face more significant delays in language and problem-solving ^[4][2]. Educational, communication, and developmental assessments should guide the support your child receives, rather than assuming their future is already fixed by the diagnosis.

Red Flags: When to Seek Immediate Medical Care

While many changes in Andermann syndrome happen gradually, certain symptoms—especially involving breathing, swallowing, and seizures—require urgent medical attention.

Call 911 or your local emergency services immediately if your child experiences:

• Severe breathing difficulty, such as gasping for air, or their skin/lips turning a blue or gray color.
• Choking with persistent distress, or an inability to clear secretions/mucus from their airway.
• Marked sleepiness or unresponsiveness that you cannot easily wake them from.
• A prolonged seizure (lasting more than 5 minutes) or repeated seizures without recovering in between ^[5].

Same-Day Clinician Call (Contact your care team promptly):

• A noticeable decrease in cough strength or increased work of breathing while resting ^[6][7].
• A new “wet” or gurgly sound to their voice or breathing after swallowing ^[8].
• Signs of a new chest infection or pneumonia ^[9].

Swallowing and Aspiration Risks

Dysphagia, or difficulty swallowing, can develop as the nerves and muscles involved in eating become weaker ^[10]. If food or liquid accidentally enters the airway instead of the stomach, it is called aspiration, which can lead to lung infections ^[8]. Importantly, aspiration can be silent, meaning it happens without any coughing at all. Do not assume swallowing is safe just because there is no cough. Discuss a formal swallowing evaluation with your team, especially if meals are taking an unusually long time compared to your child’s baseline pattern.

Seizures and Spells

Seizures have been reported in children with Andermann syndrome, particularly those with brain differences like agenesis of the corpus callosum, though they are not universal ^[11][12]. A seizure can look like rhythmic jerking, but it can also be subtle, such as periods of staring, unresponsiveness, or “tuning out” that you cannot break. It is important to know that many ordinary staring spells in children are not seizures. If you notice a new or unusual spell, keep your child safe, try to video record the event if possible, and contact your neurologist ^[5]. For a known seizure that lasts more than 5 minutes or causes breathing difficulty, follow your doctor’s emergency seizure action plan or call emergency services.