Hereditary sensory-motor neuropathy type 4

Introduction: Hereditary sensory-motor neuropathy type 4

Description of Hereditary sensory-motor neuropathy type 4

Hereditary sensory-motor 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 sensory-motor neuropathy type 4: Related Topics

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

• Hereditary sensory-motor neuropathy
• Motor neuropathy
• Hereditary
• Sensory
• Motor
• Neuropathy (55 causes)
• Type

Terms associated with Hereditary sensory-motor neuropathy type 4:

Terms Similar to Hereditary sensory-motor neuropathy type 4:

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

Source: Diseases Database

External links related to: Hereditary sensory-motor 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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