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Spinal deformities

MedGen UID:
506227
Concept ID:
CN007429
Finding
 
HPO: HP:0008443

Term Hierarchy

Conditions with this feature

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
MedGen UID:
375113
Concept ID:
C1843183
Disease or Syndrome
Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Some people never realize they have the disorder, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision. There are several types of Charcot-Marie-Tooth disease. Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct nerve impulses. These abnormalities slow the transmission of nerve impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body and transmits nerve impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or myelin and is distinguished from the other types by its pattern of inheritance. In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both axons and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in a gene on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) are distinguished by the specific gene that is altered. Sometimes other, more historical names are used to describe this disorder. For example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth disease type 3 (CMT3). Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition is not actually a form of Charcot-Marie-Tooth disease. Instead, they classify it as a separate disorder characterized by peripheral nerve problems, deafness, and vision loss.
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MedGen UID:
767376
Concept ID:
C3554462
Disease or Syndrome

Recent clinical studies

Etiology

Lykissas MG, Crawford AH, Jain VV
Orthop Clin North Am 2013 Jul;44(3):357-70, ix. Epub 2013 Apr 24 doi: 10.1016/j.ocl.2013.03.007. [Epub ahead of print] PMID: 23827838
Lykissas MG, Schorry EK, Crawford AH, Gaines S, Rieley M, Jain VV
Spine (Phila Pa 1976) 2013 Aug 15;38(18):1595-601. doi: 10.1097/BRS.0b013e31829a7779. PMID: 23680833
Jarvis JG, Strantzas S, Lipkus M, Holmes LM, Dear T, Magana S, Lebel DE, Lewis SJ
Spine (Phila Pa 1976) 2013 Apr 15;38(8):E493-503. doi: 10.1097/BRS.0b013e3182880378. PMID: 23354113
McCormick J, Aebi M, Toby D, Arlet V
Eur Spine J 2013 Mar;22 Suppl 2:S216-24. Epub 2012 Apr 25 doi: 10.1007/s00586-012-2300-5. [Epub ahead of print] PMID: 22531899Free PMC Article
Ould-Slimane M, Miladi L, Rousseau MA, Bonaccorsi R, Catonne Y, Lazennec JY, Pascal-Moussellard H
J Spinal Disord Tech 2013 Jun;26(4):212-7. doi: 10.1097/BSD.0b013e31823f6280. PMID: 22134734

Diagnosis

Lykissas MG, Schorry EK, Crawford AH, Gaines S, Rieley M, Jain VV
Spine (Phila Pa 1976) 2013 Aug 15;38(18):1595-601. doi: 10.1097/BRS.0b013e31829a7779. PMID: 23680833
Sarnadskiy VN
Stud Health Technol Inform 2012;176:159-63. PMID: 22744481
Sarnadskiy VN
Stud Health Technol Inform 2012;176:77-82. PMID: 22744463
Deschênes S, Charron G, Beaudoin G, Labelle H, Dubois J, Miron MC, Parent S
Spine (Phila Pa 1976) 2010 Apr 20;35(9):989-94. doi: 10.1097/BRS.0b013e3181bdcaa4. PMID: 20228703
Zahi R, Vialle R, Abelin K, Mary P, Khouri N, Damsin JP
Childs Nerv Syst 2010 Jan;26(1):81-6. Epub 2009 Jul 24 doi: 10.1007/s00381-009-0966-8. [Epub ahead of print] PMID: 19629492

Therapy

Lykissas MG, Crawford AH, Jain VV
Orthop Clin North Am 2013 Jul;44(3):357-70, ix. Epub 2013 Apr 24 doi: 10.1016/j.ocl.2013.03.007. [Epub ahead of print] PMID: 23827838
Arlet V, Aebi M
Eur Spine J 2013 Mar;22 Suppl 2:S276-95. Epub 2013 Feb 6 doi: 10.1007/s00586-013-2676-x. [Epub ahead of print] PMID: 23386280Free PMC Article
Ilgenfritz RM, Yaszay B, Bastrom TP, Newton PO; Harms Study Group
Spine (Phila Pa 1976) 2013 Apr 15;38(8):650-8. doi: 10.1097/BRS.0b013e3182793092. PMID: 23089928
McCormick J, Aebi M, Toby D, Arlet V
Eur Spine J 2013 Mar;22 Suppl 2:S216-24. Epub 2012 Apr 25 doi: 10.1007/s00586-012-2300-5. [Epub ahead of print] PMID: 22531899Free PMC Article
Cheng X, Ma H, Tan R, Wu J, Zhou J, Zou D
Arch Orthop Trauma Surg 2012 Feb;132(2):193-201. Epub 2011 Nov 8 doi: 10.1007/s00402-011-1415-1. [Epub ahead of print] PMID: 22068698

Prognosis

Lykissas MG, Schorry EK, Crawford AH, Gaines S, Rieley M, Jain VV
Spine (Phila Pa 1976) 2013 Aug 15;38(18):1595-601. doi: 10.1097/BRS.0b013e31829a7779. PMID: 23680833
Jarvis JG, Strantzas S, Lipkus M, Holmes LM, Dear T, Magana S, Lebel DE, Lewis SJ
Spine (Phila Pa 1976) 2013 Apr 15;38(8):E493-503. doi: 10.1097/BRS.0b013e3182880378. PMID: 23354113
Iwai C, Taneichi H, Inami S, Namikawa T, Takeuchi D, Kato N, Iida T, Shimizu K, Nohara Y
Spine (Phila Pa 1976) 2013 Jan 1;38(1):44-50. doi: 10.1097/BRS.0b013e318261ec74. PMID: 22668985
Zahi R, Thévenin-Lemoine C, Rogier A, Constantinou B, Mary P, Vialle R
Childs Nerv Syst 2011 Nov;27(11):1931-5. Epub 2011 Mar 1 doi: 10.1007/s00381-011-1411-3. [Epub ahead of print] PMID: 21360168
Elsebai HB, Yazici M, Thompson GH, Emans JB, Skaggs DL, Crawford AH, Karlin LI, McCarthy RE, Poe-Kochert C, Kostial P, Akbarnia BA
J Pediatr Orthop 2011 Jan-Feb;31(1):1-5. doi: 10.1097/BPO.0b013e318202c1f0. PMID: 21150722

Clinical prediction guides

Lykissas MG, Schorry EK, Crawford AH, Gaines S, Rieley M, Jain VV
Spine (Phila Pa 1976) 2013 Aug 15;38(18):1595-601. doi: 10.1097/BRS.0b013e31829a7779. PMID: 23680833
Jarvis JG, Strantzas S, Lipkus M, Holmes LM, Dear T, Magana S, Lebel DE, Lewis SJ
Spine (Phila Pa 1976) 2013 Apr 15;38(8):E493-503. doi: 10.1097/BRS.0b013e3182880378. PMID: 23354113
McCormick J, Aebi M, Toby D, Arlet V
Eur Spine J 2013 Mar;22 Suppl 2:S216-24. Epub 2012 Apr 25 doi: 10.1007/s00586-012-2300-5. [Epub ahead of print] PMID: 22531899Free PMC Article
Ould-Slimane M, Miladi L, Rousseau MA, Bonaccorsi R, Catonne Y, Lazennec JY, Pascal-Moussellard H
J Spinal Disord Tech 2013 Jun;26(4):212-7. doi: 10.1097/BSD.0b013e31823f6280. PMID: 22134734
Resorlu B, Ozyuvali E, Oguz U, Bozkurt OF, Unsal A
J Endourol 2012 Sep;26(9):1131-5. Epub 2012 Jun 25 doi: 10.1089/end.2012.0031. [Epub ahead of print] PMID: 22533361

Recent systematic reviews

Joaquim AF, Cheng I, Patel AA
Spine J 2012 Nov;12(11):1067-74. Epub 2012 Oct 30 doi: 10.1016/j.spinee.2012.09.054. [Epub ahead of print] PMID: 23116818
Ponnusamy KE, Iyer S, Gupta G, Khanna AJ
Spine J 2011 Jan;11(1):54-63. doi: 10.1016/j.spinee.2010.09.024. PMID: 21168099
Harrop JS, Birknes J, Shaffrey CI
Neurosurgery 2008 Sep;63(3 Suppl):46-53. doi: 10.1227/01.NEU.0000325678.25152.A7. PMID: 18812932
Peltonen J, Remes V, Holmberg C, Jalanko H, Helenius I
Eur Spine J 2006 Aug;15(8):1230-8. Epub 2006 Jan 10 doi: 10.1007/s00586-005-0042-3. [Epub ahead of print] PMID: 16402209Free PMC Article
Lee CK, Chang BS, Hong YM, Yang SW, Lee CS, Seo JB
J Bone Joint Surg Am 2001 Oct;83-A(10):1495-502. PMID: 11679599

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