Ataxia–Deafness–Intellectual Disability Syndrome

Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic condition where a child develops trouble with balance and coordination (ataxia), permanent inner-ear hearing loss (sensorineural deafness), and learning or thinking problems (intellectual disability). Doctors now understand that many people given this label actually sit on a broader spectrum of conditions caused by changes in a gene called PRPS1. That spectrum includes Arts syndrome (more severe and early-onset), CMTX5 (X-linked Charcot-Marie-Tooth type 5), and DFNX1 (X-linked nonsyndromic hearing loss). People across this spectrum can share ataxia, hearing loss, optic nerve problems, and peripheral neuropathy. There is no single test you can do at home; diagnosis requires genetic testing and specialist evaluation. NCBI+1

The PRPS1 gene makes an enzyme (PRPP synthetase-1) that helps your cells build nucleotides—the small molecules needed for DNA/RNA and for energy carriers like ATP and GTP. When this enzyme is too weak (loss-of-function), nerve cells in hearing, vision, and movement systems can be affected over time; when it is too active (gain-of-function), it can cause overproduction of uric acid (a different condition). In the ADID/Arts/CMTX5 part of the spectrum, the enzyme works too little, leading to the hearing, balance, and nerve problems we see. MedlinePlus+1

PRPS1-related disease is rare—dozens of families have been described worldwide. Hearing loss can be present at birth or start later in childhood; ataxia and peripheral nerve problems often progress slowly. Some children (especially boys in classic Arts syndrome) are prone to infections and may have vision loss due to optic nerve damage. Girls who carry the change can have milder symptoms or only hearing or vision issues. The overall picture is variable, but the pattern of hearing loss plus coordination problems and learning difficulties, especially in males, should raise suspicion. NCBI

Ataxia–deafness–intellectual disability syndrome is a very rare neurodevelopmental disorder. Children typically show delayed milestones and learning difficulties (intellectual disability), develop progressive problems with balance and coordination (ataxia) in infancy or childhood, and have bilateral sensorineural hearing loss (inner-ear/nerve-related deafness). Some people may also show signs of nerve and muscle involvement (e.g., muscle wasting, tight heel cords), or features of both upper and lower motor neuron disease. Only a handful of families have been described in the medical literature, with very few new case reports since the early 1990s. Because it is so rare, its exact genetic cause and inheritance pattern remain uncertain. Genetic Diseases Info Center+2NCBI+2

Other names

• Ataxia–hearing loss–intellectual disability syndrome

• Ataxia–deafness–retardation (ADR/ADMR) syndrome (older wording in historic reports)

• Reardon–Baraitser syndrome (synonym used in some rare-disease catalogs)
  These labels all point to the same clinical triad: childhood-onset ataxia, sensorineural deafness, and intellectual disability. Orpha+1

How is this different from look-alike conditions?
Other, better-defined syndromes can look similar (for example EAST/SeSAME syndrome from KCNJ10 variants; Richards–Rundle syndrome with hypogonadism; or Perrault syndrome in females with ovarian dysfunction). Doctors consider and test for these first because they have known genes and testing pathways. MedlinePlus+5PNAS+5PubMed+5

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Types

Because formal subtypes have not been established for ADID, clinicians often use a pragmatic grouping to guide evaluation:

1. “Classical” ADID (historic core phenotype).
   Children with the triad (ataxia, bilateral sensorineural deafness, intellectual disability), sometimes with peripheral neuropathy or motor neuron signs. Gene is unknown; inheritance has been reported as uncertain (autosomal recessive or possible X-linked suggested in small families). Genetic Diseases Info Center+2NCBI+2

2. ADID-like phenotypes with known genes (to rule out first).
   This includes EAST/SeSAME (KCNJ10), autosomal dominant cerebellar ataxia–deafness–narcolepsy, and Perrault syndrome (multiple genes, mainly females affected with ovarian insufficiency). These are not ADID but can mimic parts of the triad. Testing for them prevents mislabeling. PNAS+2MedlinePlus+2

3. Broader neurogenetic or mitochondrial disorders with the triad among features.
   Some mitochondrial or lipid-processing conditions can produce combinations of ataxia, hearing loss, and developmental delay; they are part of the differential diagnosis rather than ADID per se. ataxia.org.uk+1

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Causes to consider

Important context: For ADID itself, a single causal gene has not been confirmed. So, in practice, clinicians list and test possible causes and close mimics that can produce the same triad. The list below reflects that real-world approach.

1. An ultra-rare, as-yet-unknown single-gene disorder (the original ADID families). Doctors suspect a recessive or X-linked pattern, but data are sparse. Genetic Diseases Info Center+1

2. EAST/SeSAME syndrome (KCNJ10)—channelopathy with seizures, deafness, ataxia, ID, and electrolyte issues. PNAS

3. Autosomal dominant cerebellar ataxia–deafness–narcolepsy—rare dominant disorder with ataxia and sensorineural deafness. MedlinePlus

4. Perrault syndrome (e.g., TWNK, CLPP, HARS2, LARS2, HSD17B4)—hearing loss with neurological problems (ataxia, neuropathy), especially in females with ovarian failure. MedlinePlus

5. Mitochondrial disease—energy production problems can cause ataxia, hearing loss, and developmental delay. ataxia.org.uk

6. Hereditary spinocerebellar ataxias (SCAs)—some SCAs can include hearing loss and cognitive issues. National Ataxia Foundation

7. Richards–Rundle syndrome—ataxia and deafness with hypogonadism and other features (a key mimic). National Organization for Rare Disorders

8. SNX14-related neurodevelopmental disorder—global developmental delay with ataxia and sometimes hearing issues. ScienceDirect

9. Congenital or early-childhood neuropathies—can add weakness/wasting on top of ataxia and hearing loss. Genetic Diseases Info Center

10. Cerebellar malformations/atrophy—structural causes seen on MRI that present with ataxia; may co-exist with other deficits. Practical Neurology

11. Metabolic disorders (e.g., peroxisomal, amino/organic acidemias)—can manifest with ataxia and hearing loss. ataxia.org.uk

12. Thyroid dysfunction or vitamin deficiencies (e.g., vitamin E, B12)—treatable contributors to ataxia or neuropathy. Mayo Clinic

13. Infectious/immune causes affecting the inner ear or cerebellum—rare in chronic triads but considered in workup. ataxia.org.uk

14. Traumatic or toxic exposures (e.g., ototoxins)—can add hearing loss to developmental/ataxia pictures. NCBI

15. Chromosomal copy-number changes (microdeletions/duplications)—can underlie syndromic ID with neurological signs. BioMed Central

16. Fragile X or other single-gene neurodevelopmental conditions—considered on broad ID testing panels. BioMed Central

17. Cerebellar leukodystrophies/white-matter disorders—MRI patterns help target testing. ataxia.org.uk

18. Auditory-neuropathy spectrum disorders—hearing pathway dysfunction that pairs with developmental delay. NCBI

19. Epileptic encephalopathies with comorbid hearing loss—especially when seizures are prominent (e.g., EAST/SeSAME). PNAS

20. Idiopathic/unsolved genetic cause after testing—even with modern sequencing, some children remain undiagnosed. ScienceDirect+1

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Common symptoms and signs

1. Delayed milestones—late sitting, standing, or walking because motor control develops slowly. Genetic Diseases Info Center

2. Learning difficulties/intellectual disability—problems with schoolwork, reasoning, or daily living skills. Genetic Diseases Info Center

3. Ataxia—unsteady, wide-based gait; clumsy hand movements; trouble with rapid alternating movements. Genetic Diseases Info Center+1

4. Sensorineural hearing loss—difficulty hearing speech, especially in noise; often progressive and bilateral. Genetic Diseases Info Center+1

5. Speech delay—delayed first words or unclear speech due to both hearing and motor-coordination issues. Genetic Diseases Info Center

6. Poor balance with frequent falls—especially when turning or walking in the dark/uneven surfaces. PubMed Central

7. Intention tremor or limb dysmetria—overshooting when reaching; shaky movements. PubMed Central

8. Nystagmus or abnormal eye tracking—involuntary eye movements can accompany cerebellar problems. PubMed Central

9. Peripheral neuropathy—reduced reflexes, distal weakness, or numbness in feet/hands in some cases. Genetic Diseases Info Center

10. Muscle wasting (especially lower legs)—thinner calves; may walk on toes. Genetic Diseases Info Center

11. Tight heel cords/contractures—limited ankle movement that alters gait. Genetic Diseases Info Center

12. Upper motor neuron signs—e.g., brisk reflexes or spasticity alongside lower-motor features in some reports. Genetic Diseases Info Center

13. Myopathic facial appearance—reduced facial expression or mild facial muscle weakness described historically. Genetic Diseases Info Center

14. Fatigue and low exercise tolerance—common in children with combined neurologic and hearing challenges. PubMed Central

15. Behavioral and social communication difficulties—often secondary to hearing loss and cognitive delay. Genetic Diseases Info Center

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Diagnostic tests

Goal of testing: confirm the pattern (ataxia + sensorineural deafness + developmental delay), exclude treatable causes, and look for a genetic explanation—often by ruling out ADID mimics first (because they have established genes). A neurologist, medical geneticist, and audiologist typically work together. Practical Neurology+1

A) Physical-exam–based assessments

1. Full pediatric and neurologic examination—assesses tone, reflexes, coordination, sensation, and gait to document ataxia and look for motor-neuron or neuropathy signs. PubMed Central

2. Developmental assessment—structured observation/interview to determine developmental level and adaptive skills. Results guide therapies and school supports. Genetic Diseases Info Center

3. Bedside cerebellar testing (finger-to-nose, heel-to-shin, rapid alternating movements)—characterizes coordination deficits typical of cerebellar ataxia. PubMed Central

4. Gait and posture analysis—notes wide-based stance, staggering, or toe-walking; tracks fall risk and contractures. PubMed Central

5. Otoscopy and cranial-nerve screen—rules out middle-ear causes and looks for signs of auditory-nerve pathway problems. NCBI

B) Manual/bedside hearing tests

6. Tuning-fork tests (Rinne/Weber)—quick way to suggest sensorineural (inner-ear/nerve) vs conductive hearing loss before formal audiology. NCBI

7. Behavioral audiometry (age-appropriate play/conditioned tests)—estimates hearing thresholds in children who can cooperate. NCBI

8. Tympanometry—checks eardrum/middle-ear status; helpful to separate middle-ear problems from sensorineural loss. NCBI

9. Functional mobility/balance scales (e.g., pediatric balance measures)—track fall risk and therapy progress in ataxia. PubMed Central

10. Contracture assessment (ankle dorsiflexion range)—identifies heel-cord tightness that can worsen gait. Genetic Diseases Info Center

C) Laboratory & pathological tests

11. General metabolic blood work (CBC, CMP, thyroid, B12, vitamin E, copper/ceruloplasmin)—screens for treatable contributors to ataxia/neuropathy. Mayo Clinic

12. Mitochondrial/metabolic panels (lactate, acylcarnitines, amino/organic acids; sometimes CSF studies)—look for energy-production or metabolic causes that mimic ADID. ataxia.org.uk

13. Genetic testing for global developmental delay/ID—exome or genome sequencing (now first-tier per AAP 2025 and ACMG guidance) often paired with chromosomal microarray; these tests can find known ADID-like conditions (e.g., KCNJ10, Perrault genes) or new candidates. BioMed Central+3Pediatrics+3ScienceDirect+3

14. Targeted ataxia gene panels when clinical clues suggest a hereditary ataxia—selected SCAs and DRPLA recommended in certain contexts. Louisiana Department of Health

15. Newborn hearing-screen follow-ups (if available in history)—OAE followed by automated ABR in those who fail, per common two-step protocols. PubMed

D) Electrodiagnostic tests

16. Otoacoustic emissions (OAE)—objective test of cochlear outer hair-cell function; useful in infants or when cooperation is limited. NCBI

17. Auditory brainstem response (ABR/BAER)—records hearing-nerve/brainstem responses; confirms sensorineural loss and auditory-pathway integrity. NCBI+1

18. Auditory steady-state response (ASSR)—objective method to estimate frequency-specific thresholds, especially when behavioral testing is unreliable. PubMed Central

19. Nerve conduction studies/EMG—evaluate for peripheral neuropathy or motor-neuron involvement when weakness or wasting is present. Genetic Diseases Info Center

E) Imaging tests

20. MRI of the brain (± spine)—core test in ataxia; can show cerebellar atrophy, white-matter disease, brainstem involvement, or other causes (e.g., tumor). MR spectroscopy/angiography may be added in select cases. Practical Neurology+1

Treatment overview

There is no cure yet. Care focuses on early supports, hearing rehabilitation (hearing aids or cochlear implants), vision and mobility aids, therapy services, and in select cases nutrient co-therapy (S-adenosyl-L-methionine [SAMe] with nicotinamide riboside [NR]) under specialist supervision. Case reports and small series suggest SAMe+NR may help immune cells and some clinical features in Arts syndrome (a PRPS1 disorder on this spectrum), but larger studies are still needed; this is specialist-directed and off-label. NCBI+2PubMed Central+2

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Non-pharmacological treatments

1. Family genetic counseling and education.
   Purpose: Help families understand the condition, inheritance, and testing options for relatives and future pregnancies. Mechanism: Clear information reduces uncertainty, enables informed decisions, and links families to services early. NCBI

2. Early intervention (0–5 years): speech-language, physical, and occupational therapy.
   Purpose: Build communication, motor skills, and daily living abilities as early as possible. Mechanism: Brain and nerve systems learn best with early, repeated practice; therapy supports neuroplasticity and compensatory skills. NCBI

3. Individualized Education Plan (IEP) and special education supports.
   Purpose: Tailor school supports to hearing, mobility, and learning needs. Mechanism: Classroom accommodations (FM systems, captioning, extra time) improve access to learning and reduce frustration. NCBI

4. Audiology care with hearing aids and assistive listening devices.
   Purpose: Amplify sound and improve speech understanding in daily life. Mechanism: Hearing devices deliver clearer, stronger sound to the inner ear or directly to the auditory nerve for better communication. NCBI

5. Cochlear implantation (when criteria met).
   Purpose: Provide hearing input when the inner ear is too damaged for hearing aids to help. Mechanism: The implant converts sound into electrical signals that directly stimulate the hearing nerve; in PRPS1-related disease, small reports show better communication after implantation. NCBI

6. Low-vision services and ophthalmology follow-up.
   Purpose: Manage refractive errors/strabismus and teach strategies and tools (contrast, magnifiers). Mechanism: Optimizing remaining vision and providing adaptive tools maintains independence. NCBI

7. Physical therapy (gait, balance, strength).
   Purpose: Reduce falls, improve endurance, and delay disability. Mechanism: Targeted exercises strengthen muscles, train balance, and teach safe movement patterns to work around neuropathy and ataxia. NCBI

8. Occupational therapy (fine motor, self-care, adaptive equipment).
   Purpose: Improve handwriting, dressing, feeding, and device use. Mechanism: Task-specific practice and assistive devices (modified utensils, splints) make daily activities easier and safer. NCBI

9. Speech-language therapy and AAC (augmentative/alternative communication).
   Purpose: Build expressive/receptive language and provide backup communication methods. Mechanism: Structured language training and tools (picture boards, tablets) maintain social connection even with severe hearing loss. NCBI

10. Respiratory/pulmonology support during infections (especially in boys with classic Arts syndrome).
    Purpose: Prevent respiratory failure and hospitalizations. Mechanism: Early monitoring, airway clearance techniques, and escalation plans during viral illnesses reduce risk. NCBI

11. Orthopedics/PM&R for contracture prevention.
    Purpose: Keep joints flexible (ankles, heels) and maintain walking ability. Mechanism: Stretching programs, night splints, and bracing align joints and reduce muscle tightness from neuropathy/weakness. NCBI

12. Fall-prevention and home safety planning.
    Purpose: Reduce injuries from ataxia and neuropathy. Mechanism: Remove tripping hazards, add grab bars/rails, and use proper shoes and mobility aids. NCBI

13. Nutrition counseling.
    Purpose: Support growth, immunity, and energy. Mechanism: Balanced calories, protein, and micronutrients help nerves and muscles function; dietitians also tailor textures if swallowing is unsafe. NCBI

14. Psychology/behavioral support and caregiver training.
    Purpose: Manage frustration, anxiety, or behavior linked to communication or learning challenges. Mechanism: Skills training and structured routines improve participation at home and school. NCBI

15. Vision/hearing assistive technologies (captioning, FM systems, screen readers).
    Purpose: Make information accessible across settings. Mechanism: Tech bridges sensory gaps and lowers cognitive load, improving independence. NCBI

16. Community resources and social work linkage.
    Purpose: Connect families to disability benefits, respite care, and peer support groups. Mechanism: Practical supports reduce burnout and improve adherence to therapies. NCBI

17. Immunization up-to-date and infection-prevention plans.
    Purpose: Lower risk from respiratory infections that can cause rapid weakness in severe cases. Mechanism: Vaccines and clear action plans reduce complications. NCBI

18. Low-vision orientation & mobility training (if vision loss progresses).
    Purpose: Safe navigation at home/school/community. Mechanism: Cane skills, contrast cues, and route planning increase safety and independence. NCBI

19. Fatigue and energy-management coaching.
    Purpose: Keep activity within safe limits. Mechanism: Pacing and rest-break planning help manage neuropathy/ataxia-related fatigue. NCBI

20. Regular multidisciplinary reviews.
    Purpose: Adjust hearing/vision devices, therapy goals, and school supports as needs change. Mechanism: Team care (neurology, audiology, ophthalmology, rehab, genetics) keeps the plan current. NCBI

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Drug treatments

Important: No medicine is approved to “cure” PRPS1-related ADID. Most medicines below are standard, symptom-directed options used across pediatric neurology/rehabilitation; they should be prescribed and monitored by your clinician. Where specific dosing ranges are noted, they are typical references—not personal medical advice.

1. Acetaminophen (paracetamol).
   Class: Analgesic/antipyretic. Typical dose/time: 10–15 mg/kg per dose every 4–6 h (do not exceed local maximum daily dose). Purpose: Treat pain or fever that worsens balance/participation. Mechanism: Central inhibition of prostaglandin synthesis reduces pain/fever burden. Side effects: Generally well tolerated; overdose can injure the liver—dose carefully. NCBI

2. Ibuprofen.
   Class: NSAID. Typical dose/time: ~10 mg/kg every 6–8 h with food (observe local max/day). Purpose: Pain/inflammation from overuse or orthopedic issues. Mechanism: COX inhibition lowers peripheral inflammation and pain. Side effects: Stomach upset, rare renal effects; avoid with dehydration and per clinician advice. NCBI

3. Baclofen.
   Class: Antispasticity agent (GABA-B agonist). Typical dose/time: Pediatric titration (e.g., start low once or twice daily, increase slowly to effect). Purpose: Reduce troublesome spasticity/tone that interferes with function. Mechanism: Decreases excitatory neurotransmission in spinal cord. Side effects: Sleepiness, weakness, constipation; taper to avoid withdrawal. NCBI

4. Tizanidine (selected adolescents/adults).
   Class: α2-adrenergic agonist antispasticity drug. Typical dose/time: Start low at night; titrate. Purpose: Alternative for tone or painful spasms. Mechanism: Presynaptic inhibition reduces reflex hyperexcitability. Side effects: Sedation, low blood pressure, liver enzyme elevations—monitor. NCBI

5. Gabapentin.
   Class: Neuropathic pain modulator. Typical dose/time: Weight-based titration divided TID. Purpose: Neuropathic pain/paresthesias from peripheral neuropathy. Mechanism: Modulates α2δ subunit of calcium channels, reducing excitatory neurotransmitter release. Side effects: Drowsiness, dizziness; adjust slowly. NCBI

6. Oxcarbazepine (if seizures occur).
   Class: Antiseizure. Typical dose/time: Weight-based BID; clinician titration. Purpose: Control seizures when present. Mechanism: Sodium channel modulation stabilizes neuronal firing. Side effects: Hyponatremia, rash; monitor labs and symptoms. NCBI

7. Valproate (selected cases, specialist-directed).
   Class: Broad-spectrum antiseizure/mood stabilizer. Typical dose/time: Weight-based divided dosing; monitor levels. Purpose: Seizure control where appropriate. Mechanism: GABAergic effects and sodium/calcium channel actions. Side effects: Liver toxicity, thrombocytopenia, weight gain; strict monitoring and pregnancy precautions. NCBI

8. Clonazepam (intermittent spasm/tremor).
   Class: Benzodiazepine. Typical dose/time: Very low bedtime or divided dosing. Purpose: Short-term relief of myoclonus/spasms that impair therapy. Mechanism: GABA-A potentiation. Side effects: Sedation, dependence; short courses preferred. NCBI

9. Melatonin.
   Class: Chronobiotic. Typical dose/time: 1–5 mg at bedtime (pediatric ranges vary; clinician guidance). Purpose: Sleep regulation to support learning and daytime therapies. Mechanism: Improves circadian entrainment. Side effects: Morning sleepiness, vivid dreams. NCBI

10. Ondansetron (as needed for significant nausea).
    Class: 5-HT3 antagonist antiemetic. Typical dose/time: Weight-based every 8–12 h PRN. Purpose: Maintain nutrition/hydration during illnesses. Mechanism: Blocks serotonin receptors in GI tract/brain. Side effects: Headache, constipation; QT caution with other drugs. NCBI

11. Infection action-plans (antibiotics per guidelines).
    Class: Various antimicrobials. Typical dose/time: As per infection type and local protocols. Purpose: Early treatment of respiratory infections in vulnerable boys with classic Arts-like disease. Mechanism: Targeted bacterial therapy; reduces respiratory decompensation risk. Side effects: Drug-specific; use judiciously. NCBI

12. Topical ocular treatments (per ophthalmology).
    Class: Lubricants/anti-inflammatories by specialist. Purpose: Manage ocular surface and comfort in optic neuropathy/retinal disease care plans. Mechanism: Symptom relief and secondary prevention. Side effects: Minimal for lubricants; others require supervision. NCBI

13. Vitamin D and calcium (if low and per labs).
    Class: Supplements. Typical dose/time: Per deficiency treatment standards. Purpose: Bone health when mobility is reduced. Mechanism: Supports bone mineralization. Side effects: Rare with monitored doses. NCBI

14. Constipation regimen (PEG, stool softeners when needed).
    Class: Osmotic laxatives/softeners. Typical dose/time: Per pediatric guidance. Purpose: Comfort and participation in therapy. Mechanism: Increases stool water content/motility. Side effects: Bloating; titrate. NCBI

15. Acetyl-L-carnitine (specialist-directed adjunct in neuropathy—evidence general, not PRPS1-specific).
    Class: Nutrient cofactor. Typical dose/time: Specialist dosing. Purpose: Support nerve energy metabolism. Mechanism: Fatty-acid transport into mitochondria. Side effects: GI upset; discuss risks/benefits. NCBI

16. SAMe + Nicotinamide Riboside (NR) co-therapy (research/compassionate use).
    Class: Metabolic co-therapy. Typical dose/time: Specialist-directed; not standard care. Purpose: Improve cellular nucleotide/NAD+ metabolism; early reports show immune and clinical benefits in Arts syndrome. Mechanism: SAMe supplies methyl groups; NR supports NAD+ pools; together may aid energy and survival of vulnerable cells. Side effects: GI upset, insomnia/headache; monitor. PubMed Central+2PubMed Central+2

17. Topical/enteral analgesics (per pain team).
    Class: Local anesthetics/capsaicin or systemic adjuvants. Purpose: Focal pain management to keep therapy on track. Mechanism: Local nociceptor modulation. Side effects: Local irritation; clinician oversight. NCBI

18. Intrathecal baclofen (select severe tone cases).
    Class: Implanted pump antispasticity therapy. Purpose: Reduce severe, generalized spasticity that blocks mobility care. Mechanism: Direct spinal GABA-B agonism at low systemic doses. Side effects: Surgical/device risks; specialist centers only. NCBI

19. Botulinum toxin injections (focal spasticity/contracture risk).
    Class: Neuromuscular blocker (local). Purpose: Relax overactive muscles (calves/hamstrings) to aid stretching and orthotics. Mechanism: Blocks acetylcholine at neuromuscular junction. Side effects: Local weakness; repeat sessions needed. NCBI

20. Standard immunizations and antivirals per guidelines (when indicated).
    Class: Preventive/antiviral medications. Purpose: Reduce infection-related setbacks. Mechanism: Immune priming or viral replication inhibition. Side effects: As per product; balance risks/benefits with clinician. NCBI

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Dietary molecular supplements

Note: Evidence for supplements in PRPS1-related ADID is limited. One area with emerging (still small) evidence is SAMe + NR in Arts syndrome. Everything else below is general neuro-nutrition—used to support overall health, not to cure the condition.

1. S-adenosyl-L-methionine (SAMe). Helps methylation and purine pathways; studied with NR in Arts syndrome; specialist use only. Possible GI upset/insomnia—monitor. PubMed Central+1

2. Nicotinamide riboside (NR). NAD+ precursor; paired with SAMe in early Arts reports; avoid with certain meds unless cleared. PubMed Central

3. Multivitamin with B-complex (including B1/B6/B12) if dietary intake is poor. General nerve support; do not exceed safe upper limits. NCBI

4. Vitamin D (if deficient). Bone/immune health; dose per labs. NCBI

5. Omega-3 fatty acids (DHA/EPA). General neuro-support and anti-inflammatory effects; watch for fish allergies/bleeding risk. NCBI

6. Folate (per labs/diet). Methylation support; avoid high doses without indication. NCBI

7. Iron (only if deficient). Supports cognition/energy; too much is harmful—lab-guided only. NCBI

8. Zinc (if low). Immune and growth support; excess causes copper issues. NCBI

9. Magnesium (sleep/constipation support). Choose forms with better GI tolerance; dose by clinician. NCBI

10. Protein-dense oral nutrition supplements (if underweight). Backstops energy needs to participate in rehab. NCBI

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Immunity-booster / regenerative / stem-cell drugs

There are no proven regenerative or stem-cell drugs for PRPS1-related ADID at this time. What follows are realistic, clinician-led measures that support immune safety or are research-level:

1. Routine vaccines per schedule (and household “cocooning”). Helps prevent respiratory infections that can cause acute weakness in severe cases. Not a cure, but key prevention. NCBI

2. Prompt, guideline-based treatment of infections. Early antibiotics/antivirals when indicated to avoid complications. NCBI

3. Nutrition optimization and vitamin D if low. Supports general immune function; monitor with labs. NCBI

4. SAMe + NR (specialist-directed, investigational for disease modification). Early case-level evidence in Arts syndrome only; not established. PubMed Central+1

5. Clinical trials (when available). Families can ask genetics teams about trials for PRPS1 pathways or auditory/neuropathy interventions. Evidence evolving. NCBI

6. Avoidance of ototoxic/neuropathy-risk drugs when possible. Risk-reduction to preserve remaining function (discuss alternatives with clinicians). NCBI

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Surgeries (why they’re done)

1. Cochlear implant. For severe/profound sensorineural hearing loss when hearing aids no longer help; small PRPS1 case experience shows improved communication after implantation. NCBI

2. Achilles tendon lengthening or foot procedures (selected). To correct fixed contractures from long-standing tightness and neuropathy, improving foot alignment and mobility. NCBI

3. Intrathecal baclofen pump placement (selected). Device surgery to reduce severe generalized spasticity that blocks rehab progress. NCBI

4. Strabismus surgery (when indicated). Aligns eyes for function/comfort if non-surgical measures fail. NCBI

5. Feeding tube (gastrostomy) in severe nutrition risk. Rare across the spectrum, but considered if unsafe swallowing leads to poor growth; supports safe nutrition delivery. NCBI

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Prevention

1. Early genetic diagnosis and education. NCBI

2. Keep vaccinations current; have infection action-plans. NCBI

3. Fit hearing aids/CI early and maintain them; protect from moisture/trauma. NCBI

4. Eye checks yearly (or per advice) to catch changes early. NCBI

5. Home fall-proofing and proper footwear. NCBI

6. Regular stretching/orthotics to prevent contractures. NCBI

7. Adequate sleep and nutrition; treat constipation. NCBI

8. Avoid ototoxic medicines where possible; discuss alternatives. NCBI

9. School IEP accommodations early; review yearly. NCBI

10. Regular multidisciplinary follow-ups to update the care plan. NCBI

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When to see a doctor (red flags)

See your clinician urgently for breathing trouble, rapid weakness during a respiratory infection, new seizures, sudden worsening of balance with falls, fast drop in hearing or vision, severe headaches, dehydration from vomiting, or any new concerning symptom after a medication change. Routine visits are also crucial to adjust hearing/vision devices, check growth and labs, and refresh therapy goals. NCBI

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What to eat & what to avoid

Eat: regular balanced meals with adequate protein (dairy/eggs/legumes/fish/meat), fruits/vegetables for vitamins and fiber, whole grains for steady energy, and enough fluids. If underweight or tiring easily, consider dietitian-guided calorie and protein boosters or oral supplements. Avoid/limit: dehydration (especially during illness), very low-calorie fad diets, and excess sugary drinks that displace nutrient-dense foods. If swallowing is unsafe, follow texture modifications from your therapist. There is no proven “PRPS1 diet,” so focus on overall nutrition to support therapy and immune health. NCBI

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Frequently Asked Questions

1. Is ADID the same as Arts syndrome?
   Not exactly. Many older “ADID” cases likely belong to the PRPS1 spectrum that includes Arts syndrome (more severe), CMTX5, and DFNX1. Genetics helps tell where someone sits on this spectrum. NCBI

2. How is it inherited?
   Usually X-linked (PRPS1 is on the X-chromosome). Males tend to be more affected; females can have milder or different symptoms. Genetic counseling explains risks for each family. NCBI

3. Can girls be affected?
   Yes. Girls can have hearing loss, balance issues, or eye problems—even if milder—due to X-inactivation patterns. NCBI

4. Is there a cure?
   No cure yet. Treatment is supportive and multidisciplinary; research into metabolic co-therapy (SAMe+NR) is ongoing for related Arts syndrome. NCBI+1

5. Will hearing get worse?
   It can be stable or progressive. Regular audiology checks and early use of hearing aids or cochlear implants help communication. NCBI

6. Why do some children fall a lot?
   Ataxia and peripheral neuropathy affect balance and leg strength. PT, safety changes at home, and orthotics reduce falls. NCBI

7. Can vision be affected?
   Yes—optic nerve problems may develop. Routine ophthalmology visits and low-vision services are important. NCBI

8. Do infections make things worse?
   In some boys with classic Arts-like disease, respiratory infections can trigger sudden weakness. Prevention and early treatment matter. NCBI

9. Are cochlear implants helpful here?
   In small PRPS1 reports, cochlear implants improved communication skills. Outcomes vary; evaluation by an implant team is key. NCBI

10. What about stem-cell therapy?
    No validated stem-cell treatment exists for this condition yet. Consider clinical trials with your genetics team when appropriate. NCBI

11. Could high uric acid be part of this?
    High uric acid relates to PRPS1 gain-of-function (PRS superactivity), which is a different end of the PRPS1 spectrum. ADID/Arts/CMTX5 are usually loss-of-function. NCBI

12. What tests confirm the diagnosis?
    Genetic testing of PRPS1, plus hearing/vision/neurology assessments; MRI and nerve studies can help map severity. NCBI

13. Will my child walk independently?
    Many do, but some need aids or later wheelchairs as neuropathy progresses. Regular PT and orthopedics help maintain mobility longer. NCBI

14. How can school help?
    An IEP with captioning/FM systems, extra time, and therapy services improves classroom access and success. NCBI

15. Where can I learn more?
    GeneReviews offers a detailed, clinician-vetted summary of PRPS1 deficiency (covering Arts/CMTX5/DFNX1), and MedGen/Orphanet list rare-disease entries for ADID. Share these with your care team. NCBI+1

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

Last Updated: September 24, 2025.

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