Symptoms of Refsum Disease

Symptoms of Refsum Disease

The list of signs and symptoms mentioned in various sources for Refsum Disease includes the 31 symptoms listed below:

• Vision impairments
• Retinitis pigmentosa
• Peripheral neuropathy
• Ataxia
• Impaired hearing
• Bone changes
• Skin changes
• Nystagmus (involuntary eye movements)
• Anosmia (absence of the sense of smell)
• Ichthyosis
• Progressive nerve deafness
• Reduced visual fields
• Night blindness
• Chronic polyneuropathy
• Cerebellar ataxia
• Loss of sense of smell
• Dry scaly skin
• Progressive loss of vision
• Pupillary abnormalities
• Epiphyseal dysplasia
• Clawfoot
• Long metacarpal bones
• Long metatarsal bones
• Cardiomyopathy
• Low blood cholesterol
• Increased blood phytanic acid level
• Thickened perineural sheath
• Increased protein level in cerebrospinal fluid
• Rapid involuntary eye movements
• Hypertrophic neuropathy
• Cataracts
• more information...»

Research symptoms & diagnosis of Refsum Disease:

• Overview -- Refsum Disease
• Diagnostic Tests for Refsum Disease
• Home Diagnostic Testing
• Complications -- Refsum Disease
• Doctors & Specialists
• Misdiagnosis and Alternative Diagnoses
• Hidden Causes of Refsum Disease
• Other Causes -- causes of these or similar symptoms

Refsum Disease: Complications

Review medical complications possibly associated with Refsum Disease:

• Death common in early adulthood
• more complications...»

Research More About Refsum Disease

Do I have Refsum Disease?

• Refsum Disease: Introduction
• Refsum Disease: Diagnostic Testing to confirm diagnosis
• Home Diagnostic Testing
• How serious is it?
• Treatments for Refsum Disease
• More about Refsum Disease

Refsum Disease: Undiagnosed Conditions

Diseases that may be commonly undiagnosed in related medical areas:

• Brain & Neurological Disorders: Undiagnosed:
  • Adult ADHD -- Undiagnosed - ADHD can be undiagnosed in adults.
  • ADHD -- Undiagnosed
  • Alzheimer Disease -- Undiagnosed
  • Migraine -- Undiagnosed
  • Concentration Disorders -- Undiagnosed
  • Stroke -- Undiagnosed
  • Bipolar Disorder -- Undiagnosed
  • Schizophrenia -- Undiagnosed
  • Epilepsy -- Undiagnosed
• more undiagnosed conditions...»

Home Diagnostic Testing

Home medical tests related to Refsum Disease:

• Brain & Neurological Disorders: Related Home Testing:
  • ADHD -- Home Tests
  • Drug Screening Kits
• more home tests...»

Refsum Disease: Research Doctors & Specialists

• Neurology (Brain/CNS Specialists):
  • Neurology (Brain/CNS Specialists)
  • Pediatric Neurology (Child Brain Specialist)
  • Pediatric Neurosurgery (Child Neurosurgeon)
  • Clinical Neurophysiology
  • Neurodevelopment Disabilities
  • Neurosurgery (Brain Surgery)
  • Neuromusculoskeletal Medicine (Nerve/Muscle/Bone Specialists)
  • Neuroradiology
  • Vascular Neurology
  • Neuropathology
  • Otology / Neurotology (Ear/Hearing Specialists)
• Stroke & Vascular Specialists:
  • Vascular Neurology (Brain Blood Vessels)
  • Vascular & Interventional Radiology
  • Vascular Surgery (Blood Vessel Surgeon)
  • Neuropathology (Brain Diagnostics)
• Senior Health Specialists (Geriatrics):
  • Geriatric Medicine (Senior Health Specialist)
  • Geriatric Psychiatry (Senior Mental Health)
• more specialists...»

Research all specialists including ratings, affiliations, and sanctions.

More about symptoms of Refsum Disease:

More information about symptoms of Refsum Disease and related conditions:

• Other diseases with similar symptoms and common misdiagnoses
• Tests to determine if these are the symptoms of Refsum Disease
• Symptoms that may be caused by complications of Refsum Disease
• Underlying causes of Refsum Disease

Other Possible Causes of these Symptoms

Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.

• Anosmia (absence of the sense of smell) - see all causes of Loss of smell
• Ataxia - see all causes of Ataxia
• Bone changes - see all causes of Bone changes
• Cardiomyopathy - see all causes of Cardiomyopathy
• Cataracts - see all causes of Cataracts
• Cerebellar ataxia - see all causes of Cerebellar ataxia
• Chronic polyneuropathy - see all causes of Neuropathy
• Dry scaly skin - see all causes of Dry scaly skin
• Ichthyosis - see all causes of Scaly skin
• Impaired hearing - see all causes of Hearing impairment
• Night blindness - see all causes of Night blindness
• Nystagmus (involuntary eye movements) - see all causes of Eye twitching
• Peripheral neuropathy - see all causes of Peripheral neuropathy
• Progressive loss of vision - see all causes of Vision loss
• Rapid involuntary eye movements - see all causes of Eye twitching
• Retinitis pigmentosa - see all causes of Retinitis pigmentosa
• Skin changes - see all causes of Skin changes
• Vision impairments - see all causes of Vision loss

Medical Books Online about Refsum Disease

Medical Books Excerpts Excerpts of published medical book chapters related to Refsum Disease are available from published medical books for more detailed information about Refsum Disease.

Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

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Article Excerpts About Symptoms of Refsum Disease:

Genes and Disease by the National Center for Biotechnology (Excerpt)

Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination (ataxia), retinitis pigmentosa (a progressive vision disorder), and bone and skin changes. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Refsum Disease Information Page: NINDS (Excerpt)

Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)

Refsum Disease as a Cause of Symptoms or Medical Conditions

When considering symptoms of Refsum Disease, it is also important to consider Refsum Disease as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Refsum Disease may cause:

• Anosmia
• Cardiomyopathy
• Cataracts
• Cerebellar syndrome
• Demyelination
• Ichthyosis
• Night blindness
• Peripheral demyelination
• Peripheral nerves palpable
• Peripheral neuropathy
• Retinitis pigmentosa
• Sensorineural hearing loss

Refsum Disease: Onset and Incubation

Onset of Refsum Disease: usually 4-7 years of age

Medical articles and books on symptoms:

These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:

• Diagnostic Testing for a Diagnosis of Refsum Disease
• How serious is Refsum Disease?
• More about Refsum Disease
• Online Diagnosis
• Self Diagnosis Pitfalls
• Pitfalls of Online Diagnosis
• Symptoms of the Silent Killer Diseases
• Lesser known silent killer diseases
• Books on signs and symptoms

Full list of premium articles on symptoms and diagnosis

About signs and symptoms of Refsum Disease:

The symptom information on this page attempts to provide a list of some possible signs and symptoms of Refsum Disease. This signs and symptoms information for Refsum Disease has been gathered from various sources, may not be fully accurate, and may not be the full list of Refsum Disease signs or Refsum Disease symptoms. Furthermore, signs and symptoms of Refsum Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Refsum Disease symptoms.

 » Next page: Diagnostic Tests for Refsum Disease

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