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🔗 CustomizeMedical Overview of PHARC Syndrome
Sources citedA rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients.
Classification & codes: GARD 0017071 · Orphanet ORPHA:171848 · OMIM 612674 · ICD-10 G60.1
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
PHARC Syndrome Family Conference
Illustrative example event · location TBD
Care & management overview — PHARC Syndrome
Educational programming; see the cited sources on this hub.
PHARC Syndrome News & Developments
The latest PHARC Syndrome research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.
Recruiting trials
View all →Find a PHARC Syndrome Specialist Near You
Sample results — illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.
Treatment & Daily Living
Medical care plus the everyday therapies and supports relevant to PHARC Syndrome. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
Media Center
News, podcasts, books & research for PHARC Syndrome — real coverage, links out, never re-hosted.
Audience Guides
Plain-language guidance for the people around someone with PHARC Syndrome — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.
Companies Developing Treatments
Biopharma companies with registered trials for PHARC Syndrome — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Tools
Every institution behind the faculty, with their affiliated experts.
Plain-language tools
For clinicians, nonprofits & industry partners.
Translates any dense medical text — papers, lab results, visit notes, jargon — into plain language.
Live on tomekohealth.com — not a demo mock-up.
Research Collaboration & Matching
Live on tomekohealth.com — not a demo mock-up.
Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with PHARC Syndrome — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Grand Rounds & Accredited Education
Open Questions
Ask the community →Anyone can ask. Sign in to answer. Peer support — not medical advice, and no PHI.
Survey
Reflect on how you are doing — anonymous, with only de-identified group averages shown.
Community & Support Groups
For people living with PHARC Syndrome. Peer support, not medical advice; no PHI.
For caregivers and family navigating PHARC Syndrome.
Recent From the Community
Certified Centers of Excellence
CFF networkCare centers and specialists for PHARC Syndrome, from Tomeko’s verified provider directory (CMS NPPES).
Representative CFF centers — the official CFF directory has the complete, current list.
Nonprofits & Foundations
Grants & Financial Help
Representative programs — illustrative only. Eligibility and availability vary; not a guarantee of assistance.
Patient & Family Guides
Sources citedAn annual snapshot of PHARC Syndrome research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
Step-by-step guidance, what to expect, and a sample daily routine.
Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with PHARC Syndrome.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.