Charcot-Marie-Tooth disease type 2H
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE AR-CMT2C CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE CMT2H Axonal Charcot-Marie-Tooth disease with pyramidal involvement Autosomal recessive axonal CMT4C2 |
| Number of Symptoms | 20 |
| OrphanetNr: | 101102 |
| OMIM Id: |
607731
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| ICD-10: |
G60.0 |
| UMLs: |
C1843173 |
| MeSH: |
C535415 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 13 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003376) | Steppage gait | 41 / 7739 | ||||
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(HPO:0003438) | Absent Achilles reflex | 9 / 7739 | ||||
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(HPO:0007083) | Hyperactive patellar reflex | 4 / 7739 | ||||
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(HPO:0002936) | Distal sensory impairment | 96 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0007350) | Hyperreflexia in upper limbs | 5 / 7739 | ||||
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(HPO:0003380) | Decreased number of peripheral myelinated nerve fibers | 30 / 7739 | ||||
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(HPO:0009027) | Foot dorsiflexor weakness | 45 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(OMIM) | Brisk Hoffman and palmo-mental reflexes | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
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(OMIM) | Distal limb muscle atrophy due to peripheral neuropathy | 48 / 7739 | ||||
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(OMIM) | Rare axonal regeneration | 1 / 7739 | ||||
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(OMIM) | Thin myelin sheaths | 4 / 7739 | ||||
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(OMIM) | Loss of myelinated fibers on nerve biopsy | 6 / 7739 | ||||
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(OMIM) | Normal motor nerve conduction velocities | 6 / 7739 | ||||
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(OMIM) | Pyramidal features | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Barhoumi et al. (2001) reported a large Tunisian family with 13 affected patients with autosomal recessive axonal CMT with pyramidal features. Onset was in the first decade, and the disease course was consistent with classic CMT. In addition, ... |