Congenital Insensitivity to Pain–Anosmia–Neuropathic Arthropathy

Congenital insensitivity to pain–anosmia–neuropathic arthropathy is a very rare genetic nerve disease. In this condition, a person is born unable to feel physical pain in a normal way, they cannot smell (anosmia), and over time their joints can become badly damaged because they do not feel painful warning signals (neuropathic arthropathy or Charcot joints).Orpha+2MedlinePlus+2

Congenital insensitivity to pain–anosmia–neuropathic arthropathy is a very rare genetic nerve disease. In this condition, a person is born unable to feel physical pain anywhere in the body, and often cannot smell (this is called anosmia). Because the person cannot feel pain, bones and joints can be injured again and again; over time this can cause severe joint damage called neuropathic (Charcot) arthropathy. The problem comes from damaged pain-sensing nerves in the peripheral nervous system, not from the mind. Genetic & Rare Diseases Info Center+2MedlinePlus+2

Scientists have found that most people with this form of congenital insensitivity to pain have harmful changes (mutations) in a gene called SCN9A, and sometimes in another gene such as PRDM12. These genes normally help pain and smell nerve cells use tiny “sodium channels” (Nav1.7 channels) to send electrical signals to the brain. When both copies of the gene are damaged, the channels do not work, so pain and smell signals never reach the brain. The condition is inherited in an autosomal recessive way, meaning both parents usually carry one faulty copy but do not have the disease themselves. American Academy of Neurology+3MedlinePlus+3SAGE Journals+3

This disorder affects the peripheral nervous system, the network of nerves that carry messages between the brain, spinal cord, skin, joints, and organs. The main problem is in special pain-signaling nerve fibers and in sodium channels (tiny “gates” in nerve cell membranes) that are needed to start and carry pain signals. When these channels do not work, pain messages and smell messages do not reach the brain properly.MedlinePlus+2Cureus+2

Because pain is missing, people often do not notice injuries, broken bones, or joint damage. Joints that are used again and again while injured can slowly deform and collapse, causing neuropathic arthropathy in the feet, ankles, knees, or spine. This is why some people with this condition develop “Charcot joints,” which are swollen, unstable, and sometimes severely deformed joints.MSD Manuals+2Radiopaedia+2

In many cases this syndrome is linked to harmful changes (mutations) in the SCN9A gene, which encodes the sodium channel NaV1.7. This form is called channelopathy-associated congenital insensitivity to pain, and anosmia is very common in these patients. The disease is usually inherited in an autosomal recessive way, which means a child must receive a faulty gene copy from both parents.Wikipedia+3MedlinePlus+3Wiley Online Library+3

Other names

Channelopathy-associated congenital insensitivity to pain (CIP) – This name highlights that the main defect is in an ion channel (NaV1.7) and that the person cannot feel pain from birth. It is the term used in many genetics and neurology references.MedlinePlus+1

SCN9A-associated congenital insensitivity to pain – This name focuses on the SCN9A gene, which is often mutated in this disorder. It helps doctors link the clinical picture with a specific gene test.Wiley Online Library+1

Congenital analgesia – “Analgesia” means “no pain.” This older term is sometimes used when a person cannot feel pain from birth, but it does not mention smell loss or joint damage.Wikipedia+1

Autosomal recessive asymbolia for pain – “Asymbolia for pain” means that pain signals do not create the normal pain experience. This phrase appears in some case reports of SCN9A-related pain disorders.EJPD+1

Congenital insensitivity to pain with anosmia – This name is often used in case reports where the combination of absent pain and absent smell is clearly described. It explains the key clinical features directly.Pedneur+1

Congenital insensitivity to pain with Charcot joints – When neuropathic arthropathy (Charcot joints) is prominent, authors may use this wording to stress the typical joint complications.PubMed+2Rheumatology Research+2

Types

There is no strict, universal “type” classification only for congenital insensitivity to pain–anosmia–neuropathic arthropathy. However, clinicians often describe clinical patterns based on how strongly each feature appears.National Organization for Rare Disorders+1

1. Classic channelopathy-associated CIP with anosmia
In this pattern, the main features are lifelong absence of pain, inability to smell, and relatively preserved strength and movement. Joint damage may appear later, but early life may show mostly frequent injuries and fractures that heal but were not noticed. SCN9A mutations are commonly found in this group.MedlinePlus+2Pedneur+2

2. CIP with early neuropathic arthropathy (Charcot joints)
Some individuals develop significant joint problems in childhood. Because they do not feel pain, they may walk on injured feet or knees, leading to swelling, deformity, and instability of joints, often in feet, ankles, knees, or spine. These patients are sometimes first seen by orthopedists for Charcot joints before the pain disorder is recognized.PubMed+2Podiatry Institute+2

3. CIP with widespread skeletal complications
In a more severe pattern, people develop repeated fractures, bone deformities, leg length differences, and multiple Charcot joints. Difficulty walking, frequent casts or surgeries, and deformities of the hands and feet are common. The underlying painlessness and anosmia are still present but may be overshadowed by orthopedic problems.J Musculoskeletal Surg Res+2Cureus+2

4. CIP overlapping with autonomic features
Some patients have pain insensitivity and anosmia together with autonomic problems such as reduced sweating, temperature control difficulties, or blood pressure instability. This can overlap with other hereditary sensory and autonomic neuropathy types like CIPA (HSAN IV), and careful testing is needed to separate these syndromes.Wikipedia+2ResearchGate+2

5. Mild or late-recognized variants
Rarely, people with partial or milder forms of pain insensitivity and reduced smell may not be diagnosed until adulthood, often after a serious joint problem or unusual surgical history. Genetic testing can then reveal SCN9A or related gene variants that explain their symptoms.JNNP+2ScienceDirect+2

Causes

1. SCN9A gene mutations
The main known cause is harmful changes in the SCN9A gene. This gene makes the alpha subunit of the NaV1.7 sodium channel, which is essential for pain-signaling nerve cells. Loss-of-function mutations in both copies of SCN9A stop the channel from working, so pain signals cannot start properly.MedlinePlus+2Wiley Online Library+2

2. Loss of NaV1.7 channel function in pain fibers
NaV1.7 channels are highly expressed in small pain-sensing nerve fibers (nociceptors). When these channels are absent or non-functional, painful stimuli such as cuts, burns, or fractures do not create normal electrical signals, so the brain never “feels” pain.Wikipedia+2Cureus+2

3. Loss of NaV1.7 function in smell neurons
NaV1.7 channels are also present in the olfactory sensory neurons in the nose. When they do not work, smell signals cannot travel correctly, leading to congenital anosmia in many people with this condition.Cureus+2MedlinePlus+2

4. Autosomal recessive inheritance
Most reported families show autosomal recessive inheritance, meaning a child must get one faulty SCN9A gene from each parent. Parents are usually healthy carriers with one normal and one faulty gene. When both parents are carriers, each pregnancy has a 25% chance of producing an affected child.MedlinePlus+2Wiley Online Library+2

5. Consanguinity (closely related parents)
In some case reports, parents are related (for example, cousins). This raises the chance that both carry the same rare SCN9A mutation, increasing the risk of an affected child with congenital insensitivity to pain and anosmia.Cureus+2ResearchGate+2

6. Other rare pain-gene mutations
A few patients with similar pain-insensitivity syndromes have mutations in other genes involved in nerve growth or sodium channels, such as NTRK1, NGFB, and SCN11A. These genes are mainly linked to other HSAN types, but they show that multiple genes can disturb pain signaling pathways.Wiley Online Library+2Wikipedia+2

7. Abnormal development of small pain fibers
Genetic defects can lead to poor development or reduced numbers of small unmyelinated and thinly myelinated pain and temperature fibers in peripheral nerves. This structural problem contributes to the lack of pain sensation and sometimes mild temperature sense changes.Wikipedia+2National Organization for Rare Disorders+2

8. Peripheral neuropathy of sensory nerves
Because pain fibers are affected, this condition can be considered a form of peripheral sensory neuropathy. The neuropathy is selective, mainly targeting pain and smell, while many other senses remain near normal.MedlinePlus+2National Organization for Rare Disorders+2

9. Repeated unrecognized joint trauma
Neuropathic arthropathy is not present at birth but develops over time. Without pain, people may keep walking on injured or fractured joints, causing repeated micro-trauma that slowly destroys the joint surfaces and supporting tissues.MSD Manuals+2Rheumatology Research+2

10. Unnoticed fractures and dislocations
Fractures or joint dislocations may go unnoticed because they do not hurt. If not treated correctly, these injuries heal in poor alignment and increase abnormal joint loading, which accelerates neuropathic arthropathy.J Musculoskeletal Surg Res+2Cureus+2

11. Ligament laxity from chronic overload
Long-term mechanical stress on joints that are already injured can stretch ligaments, making joints loose and unstable. This laxity is a known contributor to the deformity seen in Charcot joints.MSD Manuals+2Podiatry Institute+2

12. Abnormal bone remodeling
Repeated micro-fractures and abnormal weight bearing cause rapid bone breakdown and extra bone formation. This disturbed remodeling leads to the typical “fragmented” and deformed look of Charcot joints on imaging.MSD Manuals+2Radiopaedia+2

13. Delayed diagnosis and lack of protection
Because the condition is rare, many children are not diagnosed early. Without a diagnosis, families may not know to protect the joints, use braces, or limit certain activities, so joint damage progresses more quickly.Cureus+2Rheumatology Research+2

14. High physical activity on damaged limbs
Children often remain active despite fractures or swelling because they do not feel pain. High activity levels on damaged limbs cause further cartilage wear and bone collapse, contributing to neuropathic arthropathy.J Musculoskeletal Surg Res+2Cureus+2

15. Poor visual monitoring of injuries
Young children may not notice or report wounds or swelling, so cuts, ulcers, or fractures can remain untreated. This delayed care allows infection or further mechanical damage, increasing joint destruction.National Organization for Rare Disorders+2Wikipedia+2

16. Infections in bones and joints
When unnoticed wounds or fractures become infected, the infection can spread to bone (osteomyelitis) and joints, weakening the bone structure and speeding up arthropathy.J Musculoskeletal Surg Res+2Rheumatology Research+2

17. Coexisting skeletal deformities
Some patients develop leg length differences, foot deformities, or spinal deformities from repeated injuries. These deformities change weight bearing and joint mechanics, which further damage joints and surrounding structures.J Musculoskeletal Surg Res+2PubMed+2

18. Environmental hazards and unsafe footwear
Walking barefoot or using poorly fitting shoes can lead to more foot injuries in someone who cannot feel pain. These repeated minor injuries can accumulate and promote neuropathic joint changes.MSD Manuals+2Rheumatology Research+2

19. Lack of specialized follow-up
If patients do not have regular follow-up with neurology and orthopedics, early joint changes may be missed on imaging, and preventive measures like bracing or off-loading may not be started, increasing the risk of severe arthropathy.PubMed+2J Musculoskeletal Surg Res+2

20. Genetic and environmental interaction
The basic cause is genetic, but the final severity of neuropathic arthropathy depends on environmental factors such as activity level, trauma, footwear, and access to care. The interaction between genes and environment explains why some people from the same family have milder or more severe joint problems.National Organization for Rare Disorders+2Wiley Online Library+2

Symptoms

1. Lifelong absence of pain
The hallmark symptom is that the person does not feel physical pain from birth. They may not cry with injuries, needles, or broken bones, and parents often notice that the child seems unusually “brave” or indifferent to painful events.MedlinePlus+2National Organization for Rare Disorders+2

2. Inability to smell (anosmia)
Most people with channelopathy-associated CIP also have complete loss of smell. They cannot detect odors such as food smells, perfumes, smoke, or gas leaks, which can affect safety and quality of life.MedlinePlus+2Pedneur+2

3. Normal touch but absent pain
Touch, pressure, and vibration are often close to normal. The person can feel that they are being touched or that something is sharp or dull, but they do not experience the normal painful feeling that tells them something is harmful.MedlinePlus+2National Organization for Rare Disorders+2

4. Frequent bruises, cuts, and minor injuries
Children may accumulate many bruises, scars, and skin wounds because they do not withdraw from painful stimuli. Parents may first seek help because of unusual injury patterns without clear pain complaints.National Organization for Rare Disorders+2Cureus+2

5. Fractures and bone injuries without pain
Broken bones in arms, legs, or feet may occur after falls or impacts, but the child may continue to walk or play without complaint. This pain-free behavior is a key clue to the diagnosis.J Musculoskeletal Surg Res+2Rheumatology Research+2

6. Neuropathic (Charcot) joints
Over time, major weight-bearing joints such as ankles, knees, or spine may become swollen, unstable, and deformed. X-rays can show bone fragmentation, collapse, and abnormal joint shapes, typical features of neuropathic arthropathy.MSD Manuals+2Radiopaedia+2

7. Gait and walking problems
Because of joint deformity and repeated fractures, walking can become difficult or painful only in a mechanical sense (from stiffness and instability). People may limp, use walking aids, or need braces or surgery to support damaged joints.J Musculoskeletal Surg Res+2Cureus+2

8. Swollen joints with little or no pain complaint
Joints may appear warm and swollen, like in arthritis, but the person still reports little or no pain. This mismatch between joint destruction and low pain complaint is typical of Charcot neuroarthropathy.MSD Manuals+2Radiopaedia+2

9. Skin wounds and ulcers on pressure areas
Because patients do not feel discomfort from pressure, they may develop chronic skin wounds or ulcers on the feet or other pressure points. These wounds can become infected if not seen and treated early.National Organization for Rare Disorders+2Wikipedia+2

10. Reduced temperature awareness (in some patients)
Some individuals also have reduced ability to feel hot and cold, especially with SCN9A and related HSAN conditions. This increases the risk of accidental burns or frostbite, although not all patients have strong temperature loss.MedlinePlus+2Wikipedia+2

11. Eye injuries and possible vision problems
Injuries to the eye surface can occur because pain does not warn the person to stop rubbing or remove irritants. If such injuries are not noticed, they can lead to scarring and, in severe cases, visual problems.MedlinePlus+2National Organization for Rare Disorders+2

12. Oral and dental problems
Because pain is absent, bites to the tongue or lips or damage to teeth may go unnoticed. Repeated injuries or poor oral hygiene can lead to dental problems and infections that require regular dental monitoring.National Organization for Rare Disorders+2Wikipedia+2

13. Delayed recognition of serious illness
Pain is often the first sign of many illnesses, such as appendicitis, infections, or fractures. In people with CIP, serious conditions may progress further before being detected, because the usual pain warning is missing.National Organization for Rare Disorders+2Cureus+2

14. Emotional and psychosocial impact
Living with a chronic risk of injury, frequent hospital visits, and visible joint deformity can affect school, work, and social life. People may feel different from others and need psychological and social support.National Organization for Rare Disorders+2J Musculoskeletal Surg Res+2

15. Possible autonomic features in some cases
Although classic SCN9A-related CIP mainly affects pain and smell, some patients show overlapping autonomic signs such as abnormal sweating or temperature control issues, especially where the condition overlaps with other HSAN types.Wiley Online Library+2Wikipedia+2

Diagnostic tests

In practice, doctors combine clinical examination, manual bedside tests, laboratory and pathology tests, electrodiagnostic studies, and imaging to diagnose congenital insensitivity to pain–anosmia–neuropathic arthropathy and to check joint damage.National Organization for Rare Disorders+2MedlinePlus+2

Physical exam tests

1. General physical and injury inspection
The doctor carefully inspects the whole body for scars, bruises, ulcers, swelling, deformities, or signs of old fractures. The combination of many injuries with little or no pain complaint gives an important clue to congenital pain insensitivity.National Organization for Rare Disorders+2Cureus+2

2. Detailed neurological sensory examination
A full neurological exam checks light touch, pinprick pain, vibration, and temperature in different body areas. In this condition, pain sensation is markedly reduced or absent, while other sensations may be preserved, which helps distinguish it from other neuropathies.MedlinePlus+2National Organization for Rare Disorders+2

3. Bedside smell (olfaction) testing
Simple smell tests use familiar odors such as coffee or soap. The patient is asked to close their eyes and identify the smell. People with this syndrome usually cannot detect or recognize any smells, supporting a diagnosis of congenital anosmia.MedlinePlus+2Pedneur+2

4. Musculoskeletal and joint examination
The doctor examines joints for swelling, warmth, range of motion, instability, and deformity. In neuropathic arthropathy, joints may be grossly swollen and deformed, but the patient reports minimal discomfort, which is typical for Charcot joints.MSD Manuals+2Radiopaedia+2

5. Gait and posture assessment
Observation of walking, standing, and changes in posture can reveal limping, imbalance, or unusual foot placement. These signs point to chronic joint damage, muscle weakness, or bone deformities in someone who does not feel pain.J Musculoskeletal Surg Res+2PubMed+2

Manual tests

6. Manual joint stability tests
The clinician gently stresses joints in different directions to check for looseness or abnormal movement. Excessive movement or instability, with little or no pain, supports the presence of neuropathic joint disease.MSD Manuals+2Radiopaedia+2

7. Manual muscle strength testing
Using simple resistance tests, the doctor grades muscle strength in arms and legs. In many people with this condition, strength is fairly normal, which helps separate it from other neuromuscular diseases where weakness is prominent.National Organization for Rare Disorders+2Wiley Online Library+2

8. Deep tendon reflex testing
Reflexes (such as knee jerks) are checked with a reflex hammer. Results are often normal or only mildly changed, again suggesting that the main problem is selective pain pathway dysfunction rather than a widespread motor neuropathy.National Organization for Rare Disorders+2Wikipedia+2

9. Manual examination of feet and pressure points
Because foot ulcers and early Charcot changes may be painless, doctors manually check soles, toes, and pressure points for tenderness, calluses, or deformities. Finding ulcers or bony enlargement without pain can be an early sign of neuropathic arthropathy.MSD Manuals+2Rheumatology Research+2

Laboratory and pathological tests

10. Genetic testing for SCN9A mutations
Molecular genetic testing of the SCN9A gene is a key diagnostic step. Finding two disease-causing variants confirms channelopathy-associated congenital insensitivity to pain. This test also helps with family counseling and future pregnancy planning.Wiley Online Library+2MedlinePlus+2

11. Extended gene panel for pain and HSAN genes
If SCN9A testing is negative, doctors may use a broader neuropathy or pain gene panel that includes genes such as NTRK1, NGFB, and SCN11A. This can detect other hereditary sensory neuropathy conditions with overlapping features.Wiley Online Library+2Wikipedia+2

12. Nerve or skin biopsy for small fiber assessment
In some centers, a nerve or skin biopsy is done to look at small nerve fibers under a microscope. Reduced or absent small pain and temperature fibers support a diagnosis of hereditary sensory neuropathy. This test is invasive and is used selectively.Wikipedia+2National Organization for Rare Disorders+2

13. Routine blood tests to rule out other causes
Basic blood tests (such as complete blood count, glucose, vitamin levels, and inflammatory markers) are done to exclude more common causes of neuropathic arthropathy, such as diabetes, infections, or autoimmune disease, and to check overall health status.MSD Manuals+2Medscape eMedicine+2

14. Infection and inflammatory markers for joint complications
If there is suspicion of infected bone or joints, tests like C-reactive protein, erythrocyte sedimentation rate, and blood cultures may be used. These help distinguish sterile neuropathic arthropathy from infection-related joint damage.MSD Manuals+2J Musculoskeletal Surg Res+2

Electrodiagnostic tests

15. Nerve conduction studies (NCS)
Nerve conduction tests measure how fast electrical signals travel along nerves. In this condition, large fiber conduction is often near normal, but pain-specific small fibers are affected, so NCS may be normal or only mildly abnormal, supporting a selective pain pathway problem.National Organization for Rare Disorders+2Wiley Online Library+2

16. Electromyography (EMG)
EMG assesses muscle electrical activity. It is usually performed together with NCS to rule out motor neuropathy or myopathy. Normal EMG with severe pain loss points toward a specific sensory channelopathy rather than a generalized neuromuscular disease.National Organization for Rare Disorders+2Wiley Online Library+2

17. Quantitative sensory testing (QST)
QST uses controlled stimuli (heat, cold, vibration) to measure thresholds for feeling and pain. People with congenital insensitivity to pain often have very high pain thresholds or no pain response at all, while touch thresholds may be normal. This pattern supports the diagnosis.MedlinePlus+2Wikipedia+2

Imaging tests

18. Plain X-rays of affected joints
X-rays are the first-line imaging test for suspected Charcot joints. They can show bone fragmentation, joint space changes, new bone formation, and deformity. Radiographic damage that looks severe compared with low pain complaint is a classic sign.MSD Manuals+2Radiopaedia+2

19. MRI of joints and spine
MRI gives detailed images of soft tissues, bone marrow, and cartilage. It helps detect early bone marrow edema, small fractures, and ligament injuries before they are obvious on X-ray, and it is especially useful for complex joints or the spine.PubMed+2Cureus+2

20. CT scan or bone scan for complex deformities
CT scans can show fine bone details and help plan surgery in severely deformed joints. Bone scans or nuclear medicine studies may be used to distinguish active neuropathic arthropathy from infection or to assess the extent of bone involvement.MSD Manuals+2Medscape eMedicine+2

Non-Pharmacological Treatments

1. Family and patient education
   Education is the single most important “treatment” for congenital insensitivity to pain–anosmia–neuropathic arthropathy. Parents, caregivers and, later, the affected child must learn that pain is missing, so injuries will not be felt. Teaching them to check the whole body daily, avoid risky activities, and respond fast to cuts, swelling, or redness can prevent many serious problems. Leaflets, videos, and regular counselling visits are used to keep this knowledge fresh over time. PMC+2社会福祉法人日本心身障害児協会+2

2. Multidisciplinary care team
   A coordinated team usually includes a pediatrician or internist, neurologist, orthopedic surgeon, dentist, ophthalmologist, physiotherapist, and psychologist. Each specialist watches a different part of the body and life: bones, joints, teeth, eyes, movement, mood, and learning needs. Regular shared visits help the team find problems early, such as silent fractures, joint deformities, dental injuries, or eye damage, and plan treatments before they become severe. Physiopedia+2PMC+2

3. Safe home and school environment
   Because pain does not warn the child, the environment should be carefully adapted. Corners can be padded; sharp furniture edges covered; hot water heaters set to a lower safe temperature; and floors kept free of tripping hazards. Teachers and school staff should understand the condition and watch for unexplained bruises or limping. Simple changes like using guards on doors and soft flooring in play areas reduce many injuries. 社会福祉法人日本心身障害児協会+1

4. Daily skin, foot, and body checks
   A daily “head-to-toe” check is recommended. Parents or caregivers look at the skin for cuts, blisters, burns or colour changes; they also check feet for pressure areas from shoes and hands for bite marks. This routine becomes a habit, like brushing teeth. Catching a small wound early allows quick cleaning and bandaging, which can stop infection and deeper tissue damage. LWW Journals+2Brieflands+2

5. Joint and bone protection strategies
   Because repeated, painless injuries cause neuropathic (Charcot) joints and fractures, joint protection is central. Orthopedic teams often prescribe braces, custom shoes, or walking aids to reduce pressure on fragile joints such as ankles, knees, and spine. People are advised to avoid high-impact sports, long standing on hard surfaces, and carrying heavy loads. Early protection can slow or prevent severe joint collapse. PubMed+2PMC+2

6. Physiotherapy and safe exercise
   Physiotherapists design exercise programmes that build muscle strength, balance, and flexibility without overloading joints. Low-impact activities like swimming or carefully supervised cycling may be recommended, while high-impact jumping or contact sports are discouraged. Strong muscles can better support unstable joints and improve posture, which can reduce deformities and later disability. PMC+1

7. Occupational therapy and daily-living training
   Occupational therapists teach safe ways to perform everyday tasks, such as cooking, cleaning, writing, and playing. They may suggest special utensils, protective gloves, or adapted tools that reduce the risk of burns and cuts. For older children and adults, they focus on safe work skills and job planning so that employment does not expose them to constant unnoticed trauma. 社会福祉法人日本心身障害児協会+1

8. Dental care and mouth protection
   Self-biting of tongue, lips, or fingers is common because it does not hurt. Dentists often smooth sharp tooth edges, fit mouth guards, and sometimes remove primary teeth that are causing severe self-injury. Good brushing, fluoride, and regular dental visits are vital because tooth abscesses and jaw infections may not be painful and can spread before being noticed. Hong Kong Journal of Paediatrics+2KAPD Journal+2

9. Eye protection and ophthalmology follow-up
   Patients may rub or scratch their eyes without feeling pain, which can lead to corneal ulcers and scarring. Protective glasses, avoiding dusty environments, using lubricating eye drops, and regular eye examinations help protect vision. Early treatment of redness, discharge, or visual blur can stop permanent loss of sight from neglected ulcers or infections. ResearchGate+2American College of Orthopedic Surgeons+2

10. Temperature and anhidrosis management
    Some related conditions (especially with anhidrosis) have poor sweating and temperature control. Even if sweating is normal here, families are taught to watch for overheating because the child may not feel heat pain. Cool clothing, shade, fans, drinking enough fluids, and avoiding hot baths or saunas are simple but life-saving measures in warm climates. National Organization for Rare Disorders+2Europe PMC+2

11. Infection prevention and hygiene
    Small, painless wounds can become deep infections or osteomyelitis. Regular hand-washing, careful foot hygiene, nail care, and fast cleaning of any cut with soap and water are basic rules. Families also learn the warning signs of infection that do not rely only on pain, such as swelling, heat, pus, bad smell, or new difficulty using a limb. PubMed+2Brieflands+2

12. Protective footwear and orthotics
    Custom-made shoes and insoles spread pressure evenly across the foot and ankle, lowering the risk of ulcers and Charcot joints. Extra-deep shoes may be used to accommodate deformities. Regular shoe inspection for nails, stones, or worn areas is essential because the patient will not feel discomfort that normally warns of a problem. PubMed+2Wiley Online Library+2

13. Behavioural therapy for self-injury
    Psychologists and behavioural therapists can help reduce habits like lip or finger biting, chewing on hard objects, or hitting body parts. Reward systems, distraction techniques, and replacement behaviours (for example, chewing safe rubber toys) may be used. This approach is especially helpful in young children who cannot yet understand the idea of pain loss. 社会福祉法人日本心身障害児協会+1

14. Psychological support and coping skills
    Living with a condition where pain is absent but injury risk is high can be stressful for both patient and family. Psychological support offers a safe space to talk about fear, guilt, frustration, and future planning. Simple, age-appropriate explanations help children understand why they must follow more rules than their friends, which can prevent anxiety and behaviour problems. Physiopedia+1

15. School and social support planning
    Teachers, classmates, and school health staff should know that the student might not react to injuries in the usual way. Written care plans can explain what to do if the child falls, has a wound, or appears unusually sleepy or unwell. Ensuring the student can participate in safe activities supports social development while still protecting health. 社会福祉法人日本心身障害児協会+1

16. Genetic counselling for the family
    Because the condition is usually autosomal recessive, each future pregnancy has a predictable risk. Genetic counselling explains the chance of having another affected child, discusses carrier testing of relatives, and reviews options for prenatal or pre-implantation diagnosis where available. This helps families make informed reproductive choices. Orpha+2MedlinePlus+2

17. Vaccination and routine preventive care
    Standard childhood and adult vaccinations remain important, because infections can be more serious if not noticed early. Regular check-ups, growth monitoring, and screening tests (for vision, hearing, and spine curvature) are arranged on schedule. Vaccines and routine visits do not change the nerve disease but reduce the overall health burden. 社会福祉法人日本心身障害児協会+1

18. Assistive devices at home
    Simple devices such as kitchen timers, temperature alarms on bath taps, seatbelt reminders, and smoke detectors provide extra layers of safety. Because pain is missing as a warning, these tools act like “outside alarms” to warn of possible harm, for example if cooking pans become too hot or if someone falls asleep with an electric blanket. 社会福祉法人日本心身障害児協会+1

19. Regular orthopedic surveillance
    Even without symptoms, scheduled X-rays and clinical exams of bones and joints help detect silent fractures, deformities, and early Charcot changes. Early casting, bracing, or limited weight-bearing can prevent severe joint destruction and loss of limb function. Surveillance plans are usually individualised depending on age, activity level, and previous injuries. PMC+2PubMed+2

20. Written emergency and long-term care plan
    Many centres create a written plan summarising the diagnosis, typical complications, emergency steps for injuries or fever, and contact details for specialists. Families carry this document to clinics and hospitals so that new doctors quickly understand that pain is absent and investigations should not rely on pain reports. A long-term plan increases safety and continuity of care. 社会福祉法人日本心身障害児協会+1

Drug Treatments

There is no specific drug approved to restore pain or smell in congenital insensitivity to pain–anosmia–neuropathic arthropathy. Medicines are used mainly to treat infections, protect bones, control fever, and manage other complications like osteoporosis or severe joint damage. All drug choices and doses must be made by specialist doctors, especially in children and teenagers. PMC+2LWW Journals+2

Below are examples of drug types that may be used as part of management. For each, the exact medicine, dose, and timing are taken from official product labels (such as those on accessdata.fda.gov) and adapted by the treating doctor to the person’s age, weight, kidney function, and infection type. This is not a dosing guide.

1. Antibiotics for skin and soft-tissue infections (for example, cephalexin)
   Cephalexin is an oral cephalosporin antibiotic approved for skin and skin-structure infections caused by susceptible bacteria. In a person with this condition, cephalexin or similar drugs may be prescribed when a wound becomes red, swollen, or oozes pus, even if it is not painful. The FDA label describes dosing spread over several times per day for a set number of days; doctors choose the exact dose and duration. Side effects can include diarrhoea, nausea, and allergic reactions. FDA Access Data+2FDA Access Data+2

2. Broader-spectrum antibiotics for severe or bone infections (for example, moxifloxacin or similar)
   Severe infections like osteomyelitis (bone infection) or complicated skin infections sometimes need broader-spectrum antibiotics, which may be given by vein in hospital. Drugs such as moxifloxacin are FDA-approved for complicated skin and skin-structure infections in adults and may be selected based on culture results. Doctors follow the label for dosing and watch closely for side effects, including effects on heart rhythm or tendons. FDA Access Data+3PubMed+3Brieflands+3

3. Bisphosphonates for osteoporosis and fracture risk (for example, alendronate)
   Repeated fractures and reduced mobility can lead to weak bones. Alendronate and other bisphosphonates are FDA-approved drugs that slow bone breakdown and are used to treat osteoporosis. They are usually taken on specific days following strict instructions (such as taking the tablet on an empty stomach and staying upright) to protect the oesophagus. Doctors decide if the benefits outweigh risks such as rare jaw problems or femur fractures. FDA Access Data+3FDA Access Data+3FDA Access Data+3

4. Pain and fever medicines for other complaints
   Even though patients do not feel typical pain, they may still need medicines like paracetamol (acetaminophen) or ibuprofen for fever or other discomforts not directly related to pain perception. Doses follow standard guidelines and must be carefully calculated, especially in children, to avoid liver or kidney damage. These drugs do not “fix” the pain-insensitivity problem; they only treat other symptoms.

5. Anti-inflammatory medicines for swelling around joints
   Sometimes, joints become swollen after injury or surgery. Short-term use of nonsteroidal anti-inflammatory drugs (NSAIDs) may be considered to reduce inflammation. However, because pain is not present, overuse could hide signs of complications, so doctors use them with caution and monitor for stomach, kidney, or cardiovascular side effects.

6. Antibiotics for dental and jaw infections
   Dental abscesses and jaw infections may not hurt, so they may be advanced when detected. Dentists and doctors use standard antibiotic regimens (for example, amoxicillin-based combinations) following FDA-labelled indications for dental and bone infections. Side effects like allergic reactions, diarrhoea, or rashes are explained to caregivers so they can watch for non-pain warning signs. FDA Access Data+2FDA Access Data+2

7. Topical antibiotics and antiseptics for minor wounds
   Creams or ointments with antibiotics or antiseptics may be applied to small cuts or blisters after cleaning. They help reduce bacterial growth at the skin surface and lower the risk that a painless wound will become a deep infection. Doctors monitor the skin for irritation or allergy to the cream itself.

8. Bone-health supplements (prescribed forms, not over-the-counter self-use)
   Prescription-strength calcium and vitamin D preparations support bone mineral density, especially in those with multiple fractures or limited sunlight exposure. Doctors use lab tests to avoid too much calcium or vitamin D, which can damage kidneys or cause other problems. These products often have detailed FDA-label instructions for dose and monitoring. FDA Access Data+2FDA Access Data+2

9. Vaccines and immunoglobulins when indicated
   While vaccines are usually given as part of routine care, specific immunoglobulin products may be used after certain high-risk exposures or injuries, for example, tetanus-prone wounds. These products are strictly dosed by weight and route according to official labels and guidelines, and they help the immune system respond more effectively to specific germs.

10. Short-term anticoagulants after major surgery
    After surgical procedures on bones or joints, doctors may prescribe blood thinners for a short time to prevent clots, especially in patients with reduced mobility. Choices include low-molecular-weight heparins or newer oral anticoagulants, given at prophylactic doses. Because bleeding may not cause typical pain, the team watches for bruising, blood in urine or stool, and other non-pain signs.

(Because there is no standard list of “20 specific CIP drugs”, the rest of the drug choices are usually standard medications for infections, osteoporosis, fever control, and surgical care, all chosen individually by specialists.)

Dietary Molecular Supplements

(These are not prescriptions. Any supplement should be approved by the treating doctor, especially in a child or teenager.)

1. Calcium – Calcium is a key mineral that makes bones hard and strong. In a person with repeated fractures, doctors may suggest a calcium supplement if diet intake is too low. The main function is to support normal bone mineralisation and muscle function. Too much calcium can cause kidney stones and other problems, so doses are matched to age and lab tests.

2. Vitamin D – Vitamin D helps the gut absorb calcium and supports bone growth and immune regulation. In children who stay indoors because of mobility problems, vitamin D levels may be low. A doctor-selected dose can improve bone mineral density, but very large doses can be toxic, so blood levels are sometimes checked. FDA Access Data+1

3. Vitamin K2 – Vitamin K2 works with vitamin D and calcium to help put calcium into bones rather than into blood vessels. It may be used in some bone-health plans, although evidence is still growing. Dose and suitability depend on other medicines, especially blood thinners, because vitamin K can affect clotting.

4. Magnesium – Magnesium participates in bone structure and in the function of nerves and muscles. If blood tests show low magnesium, supplements can support bone quality and muscle performance. Too much magnesium from pills can cause diarrhoea or, at very high levels, heart rhythm problems, so medical supervision is needed.

5. Zinc – Zinc is important for wound healing and immune function. Small zinc deficiencies can slow skin repair, which is a problem when painless wounds are common. Short, doctor-guided zinc courses may support healing, but chronic overuse can cause copper deficiency and other issues.

6. Vitamin C – Vitamin C helps the body make collagen, the main protein in skin, bone, and blood vessels. In people with frequent injuries, adequate vitamin C intake can support tissue repair and immune defence. Most needs can be met with diet; supplements are only needed if intake is poor.

7. Omega-3 fatty acids – Omega-3 fats from fish oil or algae may have mild anti-inflammatory and heart-protective effects. For someone with limited mobility, they may slightly improve cardiovascular risk profile, though they do not treat the nerve disease itself. Doses must be checked when the person is also on blood thinners.

8. High-quality protein (amino acid supplements when needed) – Protein provides building blocks for muscle and bone. If appetite is low or healing demands are high, doctors may recommend protein drinks or amino acid supplements. These products help maintain muscle mass, which supports joint stability and overall mobility.

9. Probiotics – Probiotics are “good bacteria” used to support gut health, especially during or after antibiotic courses. They may reduce antibiotic-associated diarrhoea but are not suitable for everyone, particularly those with severe immune problems. Strain and dose should be selected by a clinician.

10. Multivitamin tailored to bone and nerve health – Some clinicians choose a balanced multivitamin-mineral preparation based on age, sex, and diet pattern. The aim is to correct small micronutrient gaps that might interfere with growth, wound healing, or bone strength, while avoiding megadose single vitamins.

(Because you are a teenager, you should only take supplements if your doctor or dietitian recommends them and checks the doses for you.)

Immune-Booster and Regenerative / Stem-Cell–Related Drugs

At present, there is no approved immune-booster or stem-cell drug that cures congenital insensitivity to pain–anosmia–neuropathic arthropathy. Research is exploring gene and cell-based treatments, especially targeting SCN9A and related pathways, but these are experimental and not standard care. SAGE Journals+2MDPI+2

1. Routine vaccines – The safest and most effective “immune booster” is staying up to date with routine vaccines (such as tetanus, hepatitis, and others recommended in your country). Vaccines train the immune system to recognise germs before they cause severe disease, which is very important when injuries may go unnoticed.

2. Targeted immunoglobulin therapy in special cases – In certain high-risk exposures (for example, deep, dirty wounds with uncertain vaccine history), doctors may use immunoglobulin products to give ready-made antibodies. These are prescribed and dosed only in hospital or clinic settings.

3. Optimised nutrition and sleep as natural immunity support – Good nutrition, enough protein, vitamins, and regular sleep are powerful natural supports for the immune system. They help white blood cells work properly and allow tissues to repair after injury or surgery.

4. Experimental gene-based therapies (research only) – Laboratory and early research studies are exploring how to correct or replace faulty SCN9A channels, but this is not yet available as routine treatment. Participation in research trials, if offered, is a carefully regulated process with strict safety checks and is never done without informed consent and ethics review. ResearchGate+2LWW Journals+2

5. Experimental stem-cell or regenerative approaches (research only)
   Some scientists are investigating whether stem cells or other regenerative methods could help repair damaged nerves or joints in related conditions. For this rare disorder, there are no approved stem-cell therapies. Any clinic claiming a guaranteed cure through stem cells outside a controlled trial should be viewed with great caution.

6. Careful use of medicines that affect the immune system
   Occasionally, people with this condition may need medicines like steroids or other immunosuppressants for unrelated conditions. In such cases, doctors weigh the risk of infection very carefully because painless injuries may already put the body under stress. Extra wound checks and infection monitoring are needed when immunity is suppressed.

Surgeries

1. Fracture fixation (setting broken bones)
   Because fractures may not cause pain, they are sometimes detected late, but when found, orthopaedic surgeons may need to realign and stabilise the bone with casts, rods, or plates. The goal is to restore shape and strength so the limb can be used safely. Surgery is considered when simple casting is not enough to keep the bone straight. PubMed+2PMC+2

2. Surgery for neuropathic (Charcot) joints
   Severely damaged joints, especially ankles, knees, or spine, can become unstable and deformed. Surgeons sometimes perform joint fusion or reconstructive procedures to create a stable, plantigrade (flat and balanced) limb. This can improve walking and reduce further joint collapse, although surgery is complex and carries risk in this population. Cureus+3PMC+3American College of Orthopedic Surgeons+3

3. Spinal surgery for severe deformities
   Progressive scoliosis or other spinal deformities may develop due to repeated unnoticed injuries and abnormal posture. In advanced cases, spinal fusion surgery with metal rods and screws may be offered to stabilise the spine, protect the spinal cord, and improve sitting or standing balance. This is usually considered only when bracing fails. ScienceDirect+2PMC+2

4. Dental extractions and oral surgery
   When self-biting is severe and other methods fail, dentists may remove specific teeth to protect soft tissues. Oral surgeons may also treat jaw bone infections or cysts that have developed silently. The purpose is to prevent repeated trauma and deep infections that threaten nutrition, speech, and overall health. Hong Kong Journal of Paediatrics+2KAPD Journal+2

5. Eye procedures
   In cases of recurrent corneal ulcers or scarring from painless eye injuries, ophthalmologists may perform procedures such as tarsorrhaphy (partially sewing eyelids together) or corneal surgery. These operations aim to protect the cornea, keep the eye moist, and preserve vision as much as possible. ResearchGate+2American College of Orthopedic Surgeons+2

Prevention Tips

1. Do a full body and foot check every day.

2. Use protective shoes, braces, and mouth guards as advised.

3. Keep the home and school free from sharp edges and trip hazards.

4. Control water temperature and avoid very hot baths or surfaces.

5. Treat every cut, blister, or swelling quickly, even if it does not hurt.

6. Keep vaccinations up to date and follow infection-control hygiene.

7. Avoid high-impact sports and unsupervised climbing or jumping.

8. Attend regular follow-up visits with all specialists, even when feeling “fine”.

9. Teach friends, teachers, and relatives about the condition and what to watch for.

10. Carry written medical information and emergency contacts at all times. BMJ Journals+3PMC+3Europe PMC+3

When to See a Doctor Urgently

You should seek medical care immediately (emergency department or urgent clinic) if any of these happen:

• A new limp, swelling, deformity, or difficulty using an arm or leg, even without pain.

• Fever, extreme tiredness, or acting “not like usual”, especially with any wound.

• Red, hot, or swollen skin around a cut, blister, or joint, or pus or bad smell from a wound.

• Sudden change in vision, eye redness, discharge, or strong light sensitivity.

• Any head injury, fall from height, or suspected spinal injury.

• Signs of severe infection, such as fast breathing, confusion, or very high or very low temperature.

Regular, non-emergency visits should be scheduled as your specialist team recommends, even when you feel well, because many problems in this condition are silent at first. MDPI+3LWW Journals+3BMJ Journals+3

What to Eat and What to Avoid

1. Eat a balanced diet rich in calcium and vitamin D (milk, yoghurt, fortified plant milks, leafy greens, fish with bones) to support strong bones.

2. Eat enough protein from beans, lentils, eggs, fish, or lean meat to help healing after injuries and surgeries.

3. Eat plenty of fruits and vegetables for vitamins, minerals, and fibre that support general immunity and gut health.

4. Eat healthy fats from nuts, seeds, avocado, and oily fish to support brain and heart health.

5. Avoid very salty, very sugary, or heavily processed foods, which can worsen blood pressure, weight, and bone health over time.

6. Avoid energy drinks and excessive caffeine, especially in teenagers, because they may disturb sleep needed for healing.

7. Avoid smoking, tobacco, or vaping entirely, and avoid alcohol; these damage bones, blood vessels, and the nervous system and are unsafe at your age.

8. Avoid crash diets or severely low-calorie eating, which slow growth and wound healing.

9. Be careful with “mega-dose” supplements or internet “bone boosters”; always ask your doctor first, as some can harm kidneys, liver, or heart.

10. Drink enough clean water every day to support temperature control, circulation, and healing. FDA Access Data+2FDA Access Data+2

Frequently Asked Questions (FAQs)

1. Can this condition be cured?
   Right now, there is no cure that can restore normal pain sensation or smell. Treatment focuses on preventing injuries, treating complications early, and supporting good quality of life. Research into gene and nerve repair is active but still experimental. PMC+2NCBI+2

2. Will pain or smell ever appear later in life?
   Most people with confirmed genetic congenital insensitivity to pain and anosmia remain unable to feel pain or smell throughout life. Rarely, small changes in sensitivity may occur, but a full, normal sense of pain does not usually return. MedlinePlus+2Genetic & Rare Diseases Info Center+2

3. Is intelligence affected?
   In SCN9A-related forms, intelligence is often normal, though learning can be affected by school absences, visual problems, or social difficulties. Some other related hereditary sensory neuropathies may have developmental delays, so careful neuropsychological assessment is useful. NCBI+2Wiley Online Library+2

4. Is everyday life possible with this condition?
   Yes. Many people attend school, work, and build families, but they must follow strict safety routines. With good education, environmental changes, and regular health checks, the risk of severe complications can be reduced, though not completely removed. PMC+2MDPI+2

5. Why is neuropathic arthropathy (Charcot joints) so common here?
   Because pain is missing, joints keep being overloaded and injured. Small fractures and ligament damage go unnoticed, leading to joint collapse and deformity over time. This is similar to Charcot joints in diabetes but starts much earlier in life. Podiatry Institute+3PubMed+3PMC+3

6. Does not feeling pain mean never having problems?
   No. Pain normally protects us. In this condition, the lack of pain means injuries and infections can become severe before anyone notices. Without careful monitoring, this can shorten life expectancy and cause disability. Genetic & Rare Diseases Info Center+2ResearchGate+2

7. Are there special guidelines for doctors?
   Yes. Some countries and groups have produced detailed care guidelines for congenital insensitivity to pain with anhidrosis and related conditions. These guidelines emphasise early diagnosis, family education, regular orthopedic and dental review, and multidisciplinary care. 社会福祉法人日本心身障害児協会+2Physiopedia+2

8. Can I play sports?
   Low-impact, supervised sports may be allowed, such as swimming, cycling on safe paths, or non-contact games, but high-impact or contact sports carry high risk. The physiotherapist and orthopedic team can help choose activities that are fun but as safe as possible. 社会福祉法人日本心身障害児協会+2PMC+2

9. Will my children have this condition?
   If you have SCN9A-related congenital insensitivity to pain, each of your children will at least inherit one changed gene copy. Whether they develop the disease depends on your partner’s carrier status. Genetic counselling can provide personalised risk calculations and testing options. MedlinePlus+2Orpha+2

10. Does this condition affect life span?
    Life expectancy may be reduced mainly because of severe infections, fractures, and joint or eye complications that are not managed in time. With strict prevention and good medical care, outcomes can improve, but long-term data are still limited. Genetic & Rare Diseases Info Center+2ResearchGate+2

11. Is anosmia dangerous?
    Not smelling can be risky because you may not notice smoke, gas leaks, spoiled food, or body odour changes that signal infection. Using smoke detectors, gas alarms, and expiration-date checks on food can reduce this risk. MedlinePlus+2Genetic & Rare Diseases Info Center+2

12. Can I feel other sensations like touch or temperature?
    Most patients can feel light touch and some pressure, and many can sense temperature in a basic way, but they do not feel pain from noxious heat, cold, or mechanical injury. The exact pattern depends on which nerves and channels are affected. NCBI+2NCBI+2

13. Is it safe to use local anaesthetic or general anaesthesia?
    Yes, anaesthesia is still needed for surgery because it affects more than pain; it relaxes muscles and prevents stress responses. However, anaesthesia teams must adjust monitoring because the patient’s usual pain feedback is absent both during and after surgery. ResearchGate+2社会福祉法人日本心身障害児協会+2

14. How often should I have check-ups?
    There is no single schedule for everyone, but many experts suggest at least yearly comprehensive reviews, plus more frequent visits for children, people with recent fractures or surgeries, and anyone with eye or dental complications. Orthopedic, dental, and eye reviews are often scheduled every 6–12 months. 社会福祉法人日本心身障害児協会+2PMC+2

15. What is the most important thing I can do today?
    The most important steps are to learn about your condition, build a strong relationship with a specialist team, set up daily body checks and home safety measures, and never ignore new swelling, redness, or fever just because it does not hurt. Early action protects your future mobility and independence. PMC+2LWW Journals+2

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 21, 2025.