Hereditary sensorimotor neuropathy type 4

Introduction: Hereditary sensorimotor neuropathy type 4

Description of Hereditary sensorimotor neuropathy type 4

Hereditary sensorimotor neuropathy 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

Hereditary sensorimotor neuropathy type 4: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hereditary sensorimotor neuropathy type 4:

• Hereditary
• Sensorimotor
• Neuropathy (55 causes)
• Type

Terms associated with Hereditary sensorimotor neuropathy type 4:

Terms Similar to 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
• HSMN type 4

Source: Diseases Database

External links related to: Hereditary sensorimotor neuropathy 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

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Medical dictionaries:

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• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Syncope, Vasovagal

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