Infantile Refsum Disease
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Infantile Refsum Disease Overview

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Learn About Infantile Refsum Disease

What is the definition of Infantile Refsum Disease?
Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies. IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by genetic changes in one of the PEX genes and are inherited in an autosomal recessive manner. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.
What are the alternative names for Infantile Refsum Disease?
  • Refsum disease, infantile form
  • IRD
  • Infantile Refsum disease
  • Infantile form of phytanic acid storage disease
Who are the top Infantile Refsum Disease Local Doctors?
Experienced in Infantile Refsum Disease
Experienced in Infantile Refsum Disease
Referral may be required

Reading Hospital Neurology Suite 2200

420 W Linfield Trappe Rd, Ste 2200, 
Limerick, PA 
484-659-0111
Languages Spoken:
English
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Marta Stella is a Neurologist practicing medicine in Limerick, Pennsylvania. Dr. Stella is rated as an Experienced provider by MediFind in the treatment of Infantile Refsum Disease. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Migraine with Brainstem Aura, Transient Ischemic Attack (TIA), Pseudobulbar Affect, and Migraine. Dr. Stella is board certified in  .

Distinguished in Infantile Refsum Disease
Dr. Shiv Navada
Neurology
Distinguished in Infantile Refsum Disease
Dr. Shiv Navada
Neurology
Referral may be required

Office

527 Medical Park Dr Ste 107, 
Bridgeport, WV 
304-933-3843
Languages Spoken:
English
See accepted insurances

Shiv Navada is a Neurologist practicing medicine in Bridgeport, West Virginia. Dr. Navada is rated as a Distinguished provider by MediFind in the treatment of Infantile Refsum Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Refsum Disease, Infantile Refsum Disease, Troyer Syndrome, and Spastic Paraplegia Type 4.

 
 
 
 
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Distinguished in Infantile Refsum Disease
Distinguished in Infantile Refsum Disease
Referral may be required
Gifu-shi, JP 

Nobuyuki Shimozawa practices practicing medicine in Gifu-shi, Japan. Mr. Shimozawa is rated as a Distinguished expert by MediFind in the treatment of Infantile Refsum Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Zellweger Syndrome, Adrenoleukodystrophy (ALD), Addison's Disease, Peroxisomal Acyl-CoA Oxidase Deficiency, and Bone Marrow Transplant.

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What are the latest Infantile Refsum Disease Clinical Trials?
Foundation Fighting Blindness My Retina Tracker Registry
Foundation Fighting Blindness My Retina Tracker Registry
Enrollment Status: Recruiting
Publish Date: May 19, 2026

Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...

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The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center