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Charcot-Marie-Tooth disease axonal type 2H(CMT2H)

MedGen UID:
334344
Concept ID:
C1843173
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease type 2H; Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE; CMT 2H
SNOMED CT: Charcot-Marie-Tooth disease type 2H (720637005); Axonal Charcot-Marie-Tooth disease with pyramidal involvement (720637005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0011901
OMIM®: 607731
Orphanet: ORPHA101102

Definition

An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. [from SNOMEDCT_US]

Clinical features

From HPO
Absent Achilles reflex
MedGen UID:
108240
Concept ID:
C0558845
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Hyperactive patellar reflex
MedGen UID:
66003
Concept ID:
C0240116
Finding
Steppage gait
MedGen UID:
98105
Concept ID:
C0427149
Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Hyperreflexia in upper limbs
MedGen UID:
375112
Concept ID:
C1843175
Finding
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Axonal regeneration
MedGen UID:
340241
Concept ID:
C1854454
Finding
The presence of axonal regeneration following a previous axonal lesion.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
Concept ID:
C1858285
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Charcot-Marie-Tooth disease axonal type 2H in Orphanet.

Recent clinical studies

Etiology

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):319-25. Epub 2013 May 23 doi: 10.1136/jnnp-2013-305296. PMID: 23704315

Diagnosis

Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):319-25. Epub 2013 May 23 doi: 10.1136/jnnp-2013-305296. PMID: 23704315

Prognosis

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):319-25. Epub 2013 May 23 doi: 10.1136/jnnp-2013-305296. PMID: 23704315

Clinical prediction guides

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):319-25. Epub 2013 May 23 doi: 10.1136/jnnp-2013-305296. PMID: 23704315

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