Lethal Ataxia with Deafness and Optic Atrophy

Lethal ataxia with deafness and optic atrophy (Arts syndrome) is a rare, inherited metabolic–neurologic disease. Babies—usually boys—develop weak muscle tone, poor balance and coordination (ataxia), severe sensorineural hearing loss, and progressive damage to the optic nerve that carries visual signals to the brain (optic atrophy). In its classic form, the illness begins in infancy or early childhood and can be life-threatening because of recurrent infections and progressive neurologic decline. The disorder is X-linked and caused by harmful changes (loss-of-function variants) in the PRPS1 gene, which encodes the enzyme phosphoribosyl-pyrophosphate synthetase-1 (PRS-I)—a key enzyme that builds the cellular “building blocks” (purines and pyrimidines) needed for DNA/RNA and energy molecules like ATP and GTP. Too little PRS-I activity starves sensitive tissues (auditory nerve/inner ear, optic nerve, cerebellum, peripheral nerves, and immune cells) of these essential metabolites, leading to the hallmark features. Females can be affected but are often milder because they have a second X chromosome. Genetic Rare Disease Center+2MedlinePlus+2

Arts syndrome is a rare, inherited metabolic disease that mostly affects boys. It begins in early infancy. Children develop weak muscles (hypotonia), poor balance and coordination (ataxia), hearing loss, and damage to the optic nerve (optic atrophy) that reduces vision over time. Many also have repeated infections and developmental delay. The condition can be life-limiting in severe cases, especially without early supportive care. The root problem is a shortage of cellular building blocks for energy and DNA/RNA because of low activity of the enzyme phosphoribosyl-pyrophosphate synthetase 1 (PRPS1). PRPS1 helps make purines and pyrimidines and the energy carrier ATP; when it is weak, fast-growing or highly active tissues—brain, nerves, inner ear, and optic nerve—are hit hardest. PMC+2NCBI+2

Other names

This condition appears under several alternate names in medical references: “Arts syndrome”, “ataxia-deafness-optic atrophy, lethal”, and “ataxia, fatal X-linked, with deafness and loss of vision.” These names reflect the inheritance (X-linked), the triad of key findings (ataxia, deafness, optic atrophy), and the historically high childhood mortality in classic cases. Metabolic Support UK+1

Types

Doctors view PRPS1-related diseases as a phenotypic spectrum that depends on how much PRS-I activity remains. On the severe end is Arts syndrome (lethal ataxia with deafness and optic atrophy). A moderate form is X-linked Charcot–Marie–Tooth neuropathy type 5 (CMTX5), which features childhood-onset hearing loss, peripheral neuropathy, and often optic neuropathy/atrophy. A milder end is X-linked nonsyndromic prelingual deafness (DFNX1) without major neurologic disability. Families with different PRPS1 variants can show overlapping features across this spectrum. PMC+2Nature+2

In practical terms, clinicians sometimes describe two clinical “types” within Arts syndrome:

1. Classic early-infantile/childhood form with profound hearing loss, early optic atrophy, severe ataxia/hypotonia, recurrent infections, developmental delay, and high early mortality; and

2. Atypical/attenuated forms with later onset, partial features, or survival into adolescence/adulthood—reported especially in female heterozygotes or males with less severe PRPS1 variants. Genetic Rare Disease Center+1

The single underlying cause is a pathogenic variant in PRPS1 on the X chromosome that reduces PRS-I activity. PRS-I makes phosphoribosyl pyrophosphate (PRPP), the starting substrate for purine and pyrimidine synthesis. Low PRPP throttles production of nucleotides and NAD cofactors, impairing energy, maintenance, and repair in neurons and immune cells. Primary studies show Arts-causing PRPS1 mutations lead to markedly reduced enzyme activity in patient fibroblasts/erythrocytes. PMC+1

Why the triad? The cerebellum (balance/coordination), auditory pathway/inner ear, and optic nerve/retinal ganglion cells are highly energy-dependent and vulnerable to nucleotide shortages, explaining ataxia, deafness, and optic atrophy. Immune dysfunction (frequent infections) also reflects depleted nucleotide pools in rapidly dividing lymphocytes. Genetic Rare Disease Center

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Causes

Strictly speaking, Arts syndrome has one genetic cause—PRPS1 loss-of-function. Below are 20 contributors or mechanistic drivers inside that pathway that explain the clinical picture and variability. Each item is a short, standalone paragraph.

1. PRPS1 loss-of-function variant (the root cause). Pathogenic variants in PRPS1 reduce PRS-I activity and PRPP supply, disrupting nucleotide biosynthesis across many tissues. PubMed

2. Low PRPP availability. PRPP is the mandatory “first step” molecule for purine/pyrimidine synthesis; low PRPP throttles DNA/RNA building blocks, impairing cell function and repair. NCBI

3. Purine deficiency (ATP/GTP shortage). Energy and signaling fall when purines are scarce; neurons and sensory cells—big energy users—malfunction first. MedlinePlus

4. Pyrimidine shortage. Cells also need CTP/UTP for RNA and membrane biosynthesis; deficits compound neuronal vulnerability. NCBI

5. Compromised mitochondrial/axon maintenance. Long axons (optic nerve, auditory nerve, peripheral nerves) require abundant nucleotides for upkeep; deficits lead to axonopathy and optic atrophy. PMC

6. Cerebellar sensitivity. Cerebellar circuits that coordinate movement are exquisitely energy-dependent, explaining early ataxia. Genetic Rare Disease Center

7. Inner ear hair-cell vulnerability. Cochlear hair cells and spiral ganglion neurons degenerate when nucleotide and NAD pools are low, causing profound sensorineural hearing loss. Genetic Rare Disease Center

8. Retinal ganglion/optic nerve vulnerability. These neurons are metabolically demanding; reduced nucleotide availability drives progressive optic atrophy. NCBI

9. Immune dysfunction. T-cell survival/function can be impaired; clinical studies show improved T-cell function when metabolic support is given (SAMe + NR). ZORA

10. Genetic mosaicism in females (X-inactivation). Random X-inactivation can spare or expose tissues to the mutant PRPS1, explaining milder—but sometimes symptomatic—females. Genetic Rare Disease Center

11. Allelic heterogeneity. Different PRPS1 variants leave different residual enzyme activities, shifting severity along the Arts–CMTX5–DFNX spectrum. PMC

12. Developmental timing. Early brain/nerve development demands many nucleotides; early deficits magnify neurologic impact and prognosis. Genetic Rare Disease Center

13. Peripheral neuropathy contribution. Some patients also have PRPS1-related neuropathy akin to CMTX5, compounding weakness and motor delay. NCBI

14. Metabolic stressors (infections). Fever and infections raise energy and nucleotide demand, often precipitating regression or decompensation. Genetic Rare Disease Center

15. NAD metabolism shortfalls. Clinical reports suggest boosting NAD precursors can help, highlighting NAD-related vulnerability. PMC

16. Sensory pathway demyelination/axon loss. Nerve conduction studies and clinical patterns indicate peripheral axon involvement that hinders motor and sensory function. ScienceDirect

17. Ocular neurodegeneration. Progressive thinning of the retinal nerve fiber layer and optic pallor reflect ongoing ganglion-cell/axon loss. NCBI

18. Brainstem/auditory pathway involvement. Central auditory processing pathways may also be affected, deepening hearing disability. Genetic Rare Disease Center

19. Energy-limited plasticity/repair. Children’s nervous systems usually compensate, but lack of nucleotides blunts repair and synaptic plasticity. NCBI

20. Continuum overlap. Families can show deafness-only, neuropathy-plus, or full Arts pictures depending on variant and modifiers, underscoring a unified PRPS1 mechanism. PMC

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Symptoms

1. Unsteady movement (ataxia). Children wobble when sitting or walking and easily lose balance because the cerebellum and its wiring are underpowered. Genetic Rare Disease Center

2. Low muscle tone (hypotonia). Babies feel “floppy,” especially in the trunk and neck, due to impaired nerve–muscle signaling. PubMed

3. Delay in motor milestones. Rolling, sitting, crawling, and walking often happen late because of hypotonia, ataxia, and neuropathy. PubMed

4. Severe hearing loss early in life. Most affected boys have profound sensorineural hearing loss requiring early amplification or cochlear implants. NCBI

5. Progressive vision loss. Optic nerves gradually waste (atrophy), causing reduced sharpness and pale optic discs on eye exam. NCBI

6. Feeding difficulty and poor weight gain. Weak tone and coordination can make sucking and swallowing hard, affecting growth. Genetic Rare Disease Center

7. Frequent infections. The immune system can be weak; chest or ear infections may recur and can be serious. Genetic Rare Disease Center

8. Developmental delay and learning difficulties. Cognitive development may be slower, ranging from mild to severe. PubMed

9. Peripheral neuropathy (some patients). Numbness, reduced reflexes, foot drop, or distal weakness may appear, overlapping with CMTX5 features. NCBI

10. Vision field loss or color vision problems. Damage to retinal ganglion cells affects central vision and color discrimination. NCBI

11. Nystagmus or strabismus. Involuntary eye movements or eye misalignment can occur with optic pathway dysfunction. Genetic Rare Disease Center

12. Speech delay or dysarthria. Poor breath support and coordination affect speech clarity and timing. Genetic Rare Disease Center

13. Fatigue and low stamina. Limited energy and neuropathy make activity tiring. Genetic Rare Disease Center

14. Swallowing/aspiration risk. Poor coordination can allow liquids to enter the airway, leading to chest infections. Genetic Rare Disease Center

15. Failure to thrive or short stature (some). Recurrent illness and feeding issues can limit growth. Genetic Rare Disease Center

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Diagnostic tests

A) Physical examination (bedside)

1. Neurologic exam focused on coordination. Heel-to-shin and finger-to-nose testing reveal ataxia and intention tremor typical of cerebellar involvement. Genetic Rare Disease Center

2. Tone and reflex assessment. Low tone and reduced or absent deep-tendon reflexes suggest hypotonia and possible peripheral neuropathy. NCBI

3. Cranial nerve/eye exam. Pale optic discs on ophthalmoscopy and reduced visual acuity point to optic atrophy. NCBI

4. Growth and nutrition check. Weight, height, and head circumference track feeding success and overall wellbeing. Genetic Rare Disease Center

B) Manual/functional tests (clinic-based performance tests)

5. Gait and balance assessment. Timed up-and-go and pediatric balance scales document motor impact and progression. Genetic Rare Disease Center

6. Speech and swallow evaluation. Bedside swallow tests and speech assessments screen for aspiration risk and dysarthria. Genetic Rare Disease Center

7. Functional hearing measures. Behavioral audiometry (age-appropriate) and aided thresholds evaluate real-world hearing ability. NCBI

8. Vision function tests. Visual acuity, color discrimination, and contrast sensitivity identify early optic neuropathy. NCBI

C) Laboratory & pathological tests

9. Targeted or exome genetic testing of PRPS1. Sequencing confirms a pathogenic PRPS1 variant; this is the definitive diagnostic step. PubMed

10. Enzyme/biochemical studies (research/confirmatory). Measuring PRS-I activity or PRPP levels in fibroblasts/erythrocytes can show reduced activity supporting the diagnosis. PMC

11. Immune cell studies. Lymphocyte phenotyping or functional assays may show T-cell impairment; responses can improve with metabolic support. ZORA

12. Metabolic panels. General labs (CBC, CMP) track nutrition, infection, and organ function during illness episodes. Genetic Rare Disease Center

13. Genetic carrier testing and counseling for family members. Testing mothers/sisters can identify carriers and inform reproductive planning. Genetic Rare Disease Center

D) Electrodiagnostic tests

14. Auditory brainstem response (ABR). Objective test showing severe sensorineural hearing loss and auditory pathway dysfunction in infants. NCBI

15. Nerve conduction studies (NCS) and electromyography (EMG). Document peripheral neuropathy patterns that overlap with CMTX5 in some patients. ScienceDirect

16. Visual evoked potentials (VEP). Prolonged or reduced responses support optic nerve dysfunction early, even before marked exam changes. NCBI

E) Imaging tests

17. Optical coherence tomography (OCT). Noninvasive retinal imaging that quantifies thinning of the retinal nerve fiber layer in optic atrophy. NCBI

18. Ophthalmic fundus photography. Serial images document optic disc pallor and progression over time. NCBI

19. Brain MRI. May be normal or show cerebellar/cerebral changes; MRI helps exclude other causes of ataxia. Genetic Rare Disease Center

20. Temporal bone MRI/CT (selected cases). Used by cochlear implant teams to assess inner ear anatomy prior to implantation. NCBI

Non-pharmacological treatments

Important: No cure exists yet. The core of care is early, intensive, supportive therapy to protect hearing, vision, development, nutrition, and infection control. Evidence comes from rare-disease case series and expert reviews.

1. Genetic counseling & family planning: Explain X-linked inheritance, carrier testing for relatives, and options like prenatal or preimplantation testing. This reduces uncertainty and prepares families for early intervention if another pregnancy is planned. Counseling also clarifies the PRPS1 spectrum, which helps interpret milder presentations in female relatives. Regular updates with a geneticist ensure the family hears about emerging trials or compassionate-use options (e.g., metabolic supplementation studies). Written family letters and cascade testing streamline communication. NCBI+1

2. Early intervention (physiotherapy & occupational therapy): Daily, play-based programs build core strength, posture, and safe mobility. Therapists teach trunk control, balance strategies, and joint protection to reduce falls and contractures. Splints/orthoses may stabilize ankles; adaptive seating supports the torso and head. OT addresses fine-motor skills, feeding tools, and self-care routines. The earlier therapy begins, the better the brain adapts (neuroplasticity). Families get home exercise plans to repeat short bursts during the day. Progress is re-measured with standardized scales. PMC

3. Speech-language therapy (communication & feeding): Therapists treat dysarthria, language delay, and oromotor problems. Augmentative and alternative communication (AAC)—from picture boards to tablets—keeps language growing even if speech is limited. Safe-swallow training and texture modification prevent aspiration. Consistent therapy supports cognitive development because communication drives learning. PMC

4. Hearing rehabilitation (hearing aids/cochlear implant candidacy): Prompt amplification maximizes brain development. If hearing loss is severe and stable, a cochlear implant evaluation is reasonable; some children with PRPS1-related deafness benefit, especially with early implantation and intensive auditory-verbal therapy. Close audiology follow-up tracks progression. PMC

5. Vision support & low-vision services: Optic atrophy needs early low-vision care—contrast-rich books, high-lux lighting, large-print materials, orientation and mobility training, and school accommodations. OCT and visual function testing guide changes in aids over time. PMC

6. Infection prevention program: Because many patients have recurrent infections, set a plan: vaccination on schedule, yearly influenza shots, hand hygiene, prompt evaluation of fevers, and household education. Consider prophylaxis protocols in high-risk seasons as guided by specialists. Genetic Rare Disease Center

7. Nutrition optimization & dysphagia care: Dietitians ensure adequate calories and protein, small frequent feeds during illness, and safe textures. Temporary or long-term feeding tube support may be needed if weight falters. Maintaining energy input helps when ATP supply is low. PMC

8. Bone health & contracture prevention: Weight-bearing activities, vitamin D/calcium adequacy, and stretching programs reduce contractures and fractures from limited mobility. Orthopedics and rehab medicine co-manage bracing needs. PMC

9. Developmental education & individualized education plan (IEP): School supports include preferential seating, audio-visual aids, enlarged print, mobility assistance, and rest breaks. Regular multidisciplinary meetings keep goals realistic and measurable. PMC

10. Fall-prevention home modifications: Clear pathways, grab bars, ankle-foot orthoses when indicated, and supervised practice on stairs reduce injury risk in ataxia. PMC

11. Respiratory care pathway: Chest physiotherapy during infections, vaccination, and early antibiotics (per medical advice) limit complications. Some children benefit from airway clearance devices. Genetic Rare Disease Center

12. Fatigue management & energy conservation: Break tasks into short blocks with rests. Use mobility aids for distance. This pacing respects low ATP reserve states. ScienceDirect

13. Sleep optimization: Regular schedules and treatment of reflux or sleep-disordered breathing improve daytime function and immunity. Genetic Rare Disease Center

14. Psychological support for family stress: Counseling and peer support reduce caregiver burnout and improve adherence to therapy plans—critical in rare, chronic pediatric disorders. Genetic Rare Disease Center

15. Regular ophthalmology & audiology surveillance: Track vision and hearing to adjust aids quickly; early changes prevent loss of developmental opportunities. PMC+1

16. Neurology follow-up for seizures/ataxia: Standardized assessments help set realistic goals, guide medication selection, and time imaging or electrophysiology repeats. PMC

17. Physiatry (rehabilitation medicine) leadership: Coordinates orthoses, walkers, wheelchairs, and home programs; aligns PT/OT/speech goals. PMC

18. Social work & community resources: Helps families access equipment funding, transport, and respite care—key for long-term adherence. Genetic Rare Disease Center

19. Emergency fever plan: Written guidance for when to seek care, how to hydrate, and how to prevent rapid decline after infections, which can trigger neurologic setbacks. ScienceDirect

20. Research enrollment & natural-history registries: Families gain access to updates on metabolic supplementation strategies (e.g., SAMe + nicotinamide riboside) and contribute to future therapies. PubMed

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Drug treatments

There is no approved disease-specific drug yet. Management is supportive and symptom-directed. A small but growing body of literature describes metabolic supplementation targeting the PRPS1 pathway.

1. S-adenosyl-L-methionine (SAMe): Class: methyl-donor/metabolic supplement used as a drug in some settings. Dose/time: regimens vary in reports (e.g., oral divided doses; clinician-supervised). Purpose: augment one-carbon and nucleotide-related metabolism; support energy/redox balance. Mechanism: may help downstream reactions linked to PRPP-dependent pathways; case reports show stabilization or improvement. Side effects: GI upset, insomnia; monitor drug interactions. Evidence: case report series and literature review in Arts syndrome. PubMed+2PubMed+2

2. Nicotinamide riboside (NR): Class: NAD⁺ precursor. Purpose: boost NAD⁺ pools to support mitochondrial/redox function and T-cell survival. Mechanism: NR → nicotinamide mononucleotide → NAD⁺; may counteract NAD depletion seen with PRPP shortage. Evidence: reports of improved T-cell survival/function and clinical stabilization with SAMe + NR co-therapy in PRPS1 deficiency. Typical adverse effects: flushing, nausea. PubMed+1

3. Broad-spectrum antibiotics per infection protocol: Class: anti-infectives. Purpose: treat otitis media, pneumonia, or other infections promptly to prevent decompensation. Mechanism: pathogen-directed; reduces systemic stress that can worsen neurologic status. Risks: standard antimicrobial adverse effects; stewardship needed. Genetic Rare Disease Center

4. Antipyretics (acetaminophen/ibuprofen as appropriate): Lower fever to reduce metabolic strain and dehydration during illnesses that can precipitate decline. Monitor dosing carefully in children. ScienceDirect

5. Antiseizure medicines (e.g., levetiracetam): Used if seizures occur; chosen for favorable side-effect profiles and low interactions. Goal is seizure control without sedation that worsens hypotonia. PMC

6. Cochlear implant speech processor programming (device + meds for peri-op): While the implant is surgical, long-term success relies on device programming and occasional meds (e.g., steroids per ENT protocol) to protect the cochlea. PMC

7. Inhaled bronchodilators or steroids (if reactive airways): Used during respiratory infections to maintain ventilation, reduce hospitalization. Genetic Rare Disease Center

8. Prophylactic antibiotics (selected cases): Considered for children with recurrent bacterial infections after immunology review. Balances benefit vs. resistance risk. Genetic Rare Disease Center

9. Immunizations (routine & annual influenza): Vaccines are medications that prevent infection-related setbacks; essential in care plans. Genetic Rare Disease Center

10. Vitamin D and calcium (if deficient): Support bone health in low-mobility children to prevent fractures and pain that further limit therapy. PMC

11. Proton-pump inhibitor or H2 blocker (if reflux/aspiration risk): Protects esophagus and reduces aspiration events that can trigger pneumonia. Genetic Rare Disease Center

12. Thickening agents for liquids (technically foods but used like meds): Reduce aspiration during feeds as part of a dysphagia plan directed by speech therapy. PMC

13. Analgesics for musculoskeletal pain: Judicious use improves participation in therapy and sleep quality. PMC

14. Constipation regimen (osmotic laxatives as needed): Prevents discomfort and feeding refusal, common in low-mobility children. PMC

15. Sleep aids (behavioral first; meds only if necessary): Good sleep supports immunity and daytime function. Genetic Rare Disease Center

16. Antiemetics during intercurrent illness: Maintain hydration and caloric intake when infections cause vomiting. Genetic Rare Disease Center

17. Topical antibiotic/steroid drops for recurrent otitis/otorrhea: ENT-guided drops can reduce complications in children with hearing devices. PMC

18. Saline nebulization/airway clearance adjuncts: Keep secretions thin during respiratory infections. Genetic Rare Disease Center

19. Multivitamin (age-appropriate): Covers gaps in picky eaters or those with restricted textures. Genetic Rare Disease Center

20. Experimental/compassionate-use metabolic protocols: Enrollment-based access to PRPS1-targeted supplementation (e.g., SAMe + NR) under specialist supervision. Families should only do this within medical oversight. PubMed+1

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Dietary molecular supplements

Caution: Evidence in Arts syndrome is limited; the strongest current signals are for SAMe and NR used together under specialist care.

1. Nicotinamide riboside (NR): Builds NAD⁺ to support energy/redox; reported to improve T-cell survival combined with SAMe in PRPS1 deficiency. Monitor GI effects. PubMed

2. S-adenosyl-L-methionine (SAMe): Supports methylation and metabolic flux; paired with NR showed stabilization or improvement in case reports/literature review. PubMed

3. Riboflavin (vitamin B2): Cofactor for oxidative metabolism; sometimes used empirically in mitochondrial/energy-deficit states to support electron transport. (General metabolic rationale; not disease-specific proof.) ScienceDirect

4. Thiamine (vitamin B1): Supports pyruvate dehydrogenase; used in energy-metabolism disorders to improve ATP generation. (Adjunctive rationale.) ScienceDirect

5. Coenzyme Q10: Electron carrier in mitochondria; empirical use aims to bolster ATP production in tissues under energetic stress. (Supportive rationale.) ScienceDirect

6. L-carnitine: Assists fatty-acid transport into mitochondria; sometimes used when intake is poor or during illness to support energy. (Supportive rationale.) ScienceDirect

7. Folinic acid: Supports nucleotide synthesis; theoretical benefit when de novo pathways are strained. (Adjunctive rationale.) ScienceDirect

8. Ribose: Substrate that can enter pentose phosphate pathways; theoretical support for nucleotide pools. (Anecdotal/biochemical rationale.) ScienceDirect

9. Nicotinamide (niacinamide): Alternative NAD⁺ precursor when NR is unavailable; watch for liver effects at high doses. (General NAD biology.) ScienceDirect

10. Magnesium (if deficient): Cofactor in ATP-dependent enzymes; correcting deficiency supports neuromuscular function. (Supportive rationale.) ScienceDirect

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Immunity-booster / regenerative / stem-cell” drugs

There are no proven stem-cell or regenerative drugs for Arts syndrome today. Below are supportive immune-focused options, used only when clinically indicated.

1. Immunoglobulin replacement (IVIG/SCIG): In children with documented antibody deficiencies and recurrent infections, replacement can reduce infections; decision by immunology. Genetic Rare Disease Center

2. Palivizumab (RSV season, infants who qualify): Monoclonal antibody to prevent severe RSV in high-risk infants; reduces hospitalization risk. Genetic Rare Disease Center

3. Granulocyte colony-stimulating factor (selected neutropenia): Only if clinically indicated to treat severe neutropenia. Not routine. Genetic Rare Disease Center

4. Seasonal influenza vaccine (yearly): Reduces infection-triggered regressions; critical for family and caregivers too. Genetic Rare Disease Center

5. Pneumococcal vaccines (per schedule): Lower risk of otitis media and pneumonia. Genetic Rare Disease Center

6. Experimental metabolic co-therapy (SAMe + NR): Not an immune drug per se, but studies show improved T-cell survival/function in Arts; consider only under specialist supervision. PubMed

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Surgeries or procedures

1. Cochlear implantation: For severe, stable sensorineural deafness to provide sound perception and support language development; best outcomes with early implantation and therapy. PMC

2. Feeding tube (gastrostomy) placement: When oral intake is unsafe or inadequate; protects nutrition and lowers aspiration risk during illnesses. PMC

3. Orthopedic procedures (e.g., tendon releases): For fixed contractures that limit care or cause pain; usually after long conservative therapy. PMC

4. Strabismus surgery (selected): If significant eye misalignment worsens function or comfort despite glasses/therapy. PMC

5. Airway procedures (e.g., tympanostomy tubes): Reduce recurrent otitis media and protect hearing/implant use in children with frequent ear infections. PMC

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Prevention tips

1. Keep vaccines up-to-date for the child and close contacts. Genetic Rare Disease Center

2. Early audiology and vision care to prevent avoidable developmental loss. PMC+1

3. Written fever plan for rapid care and hydration during illnesses. ScienceDirect

4. Infection control at home (hand hygiene, sick-day isolation). Genetic Rare Disease Center

5. Daily therapy routines to maintain strength and prevent contractures. PMC

6. Safe home layout to reduce falls in ataxia. PMC

7. Adequate calories and fluids, especially during illness. PMC

8. Regular clinic follow-ups with neurology, ENT/audiology, and ophthalmology. PMC+1

9. Genetic counseling for family planning and carrier testing. NCBI

10. Consider research programs to access supervised metabolic support. PubMed

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When to see a doctor (red flags)

• Any fever, fast breathing, or chest symptoms—risk of rapid decline during infections. Genetic Rare Disease Center

• New or worsening unsteadiness, falls, or weakness. PMC

• Feeding refusal, choking, or weight loss. PMC

• Seizures or prolonged staring spells. PMC

• Sudden drop in hearing or vision. PMC+1

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What to eat and what to avoid

1. Eat: Regular, balanced meals with adequate protein to support growth. Avoid: Long fasting, which stresses low ATP reserves. ScienceDirect

2. Eat: Small, frequent meals during illness. Avoid: Dehydration; push oral rehydration early. Genetic Rare Disease Center

3. Eat: Textures recommended by speech therapy to prevent aspiration. Avoid: Thin liquids if advised to thicken. PMC

4. Eat: Foods rich in B-vitamins (meats, legumes, fortified grains) that support energy metabolism. Avoid: Very restrictive fad diets. ScienceDirect

5. Eat: Omega-3-rich fish twice weekly (if safe) for general neuro-support. Avoid: Excess added sugars that displace nutrient-dense foods. ScienceDirect

6. Eat: Adequate calcium/vitamin D foods for bones. Avoid: Persistent deficiency—ask about supplements if intake is poor. PMC

7. Eat: High-contrast, easy-to-see plates and good lighting to help kids with low vision at meals. Avoid: Dim settings that reduce intake. PMC

8. Consider: Clinician-guided NR + SAMe only within medical care. Avoid: Unsupervised high-dose supplement cocktails. PubMed

9. Eat: Fiber-rich fruits/vegetables to prevent constipation. Avoid: Dehydration that worsens bowel issues. PMC

10. Use: Written feeding plans for caregivers at school/home so intake stays consistent. Avoid: Skipping meals during busy therapy days. PMC

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FAQs

1) Is Arts syndrome the same as “lethal ataxia with deafness and optic atrophy”?
Yes—this phrase described the classic severe picture before the PRPS1 gene was identified. PMC

2) Why are boys more affected than girls?
It is X-linked; boys have one X chromosome. Girls may be carriers or have milder disease due to X-inactivation. MedlinePlus

3) How is it diagnosed?
By PRPS1 genetic testing; enzyme studies can help in unclear cases. NCBI+1

4) Is there a cure?
No approved cure yet; supportive multidisciplinary care is vital. PMC

5) Are there disease-targeted treatments?
Small studies and case reports suggest S-adenosyl-L-methionine (SAMe) with nicotinamide riboside (NR) may stabilize or improve some features, including T-cell survival—but larger trials are needed. PubMed+1

6) How does Arts syndrome relate to CMTX5 and isolated hearing loss?
They are points on a PRPS1 spectrum; severity reflects how much PRPS1 activity remains. PMC

7) What causes the hearing loss?
Metabolic stress and energy shortage damage cochlear hair cells and auditory pathways. PMC

8) What causes the optic atrophy?
Loss of retinal ganglion cells and optic nerve fibers under metabolic strain. PMC

9) Why do infections cause setbacks?
Illness raises energy demand and dehydration risk; some patients have T-cell dysfunction, so infections hit harder. PubMed

10) Can cochlear implants help?
Yes, many children with severe PRPS1-related hearing loss benefit, especially with early implantation and therapy. PMC

11) Will vision always decline?
Optic atrophy often progresses, but low-vision care maximizes function and independence. PMC

12) Should families consider research?
Yes—natural-history and metabolic supplementation studies are active; ask your genetics team. PubMed

13) What is the life expectancy?
Severe infant-onset forms can be life-limiting; outcomes vary with supportive care, infection control, and individual variant severity. PMC

14) Can carriers have symptoms?
Some female carriers may have mild hearing or retinal changes because of X-inactivation patterns. NCBI

15) Are there conditions with the opposite PRPS1 problem?
Yes—PRPS1 superactivity causes gout and neurodevelopmental issues; it is a gain-of-function in the same enzyme, showing how sensitive this pathway is. Orpha

 

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Last Updated: September 24, 2025.

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