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Charcot-Marie-Tooth disease type 4K

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

Synonyms

  • CMT4K
  • Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1
  • Charcot-Marie-Tooth disease type 4K
  • Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K
  • Charcot-Marie-Tooth disease, type 4K
  • Charcot-Marie-Tooth disease, type 4k
  • Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K
  • SURF1 Charcot-Marie-Tooth disease type 4
  • SURF1-related CMT4
  • SURF1-related Charcot-Marie-Tooth disease type 4
  • SURF1-related severe demyelinating Charcot-Marie-Tooth disease
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
  • autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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