HSMN type 4

Introduction: HSMN type 4

Description of HSMN type 4

HSMN type 4: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8)
Source: Diseases Database

HSMN type 4: Related Topics

These medical condition or symptom topics may be relevant to medical information for HSMN type 4:

• Type

Terms associated with HSMN type 4:

Terms Similar to HSMN type 4:

• Hereditary sensorimotor neuropathy type 4
• Hereditary sensory-motor neuropathy type 4
• Phytanic acid oxidase deficiency
• Phytanic acid storage disease
• Phytanoyl-CoA hydroxylase deficiency
• Refsum's disease

Source: Diseases Database

External links related to: HSMN type 4

• GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
• eMedicine - Refsum Disease : Article by Anna Zalewska, MD, PhD
• eMedicine - Charcot-Marie-Tooth Disease : Article by Divakara Kedlaya, MBBS
• OMIM - REFSUM DISEASE
• Refsum's disease (www.whonamedit.com)

Source: Diseases Database

Interesting Medical Articles:

• Symptoms of the Silent Killer Diseases
• Online Diagnosis
• Self Diagnosis Pitfalls
• Pitfalls of Online Diagnosis
• Research Your Symptoms
• Diseases & Medical Conditions
• Medical Diagnosis
• [Full list of premium articles on symptoms, diseases, and diagnosis]

Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Sitosterol

Find out more

Search to find out more about HSMN type 4:

powered by Search the Web Search wrongdiagnosis.com

 » Next page: HSMN type 5

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Tools & Services:

• Bookmark this page
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City