Distal hereditary motor neuropathy, Jerash type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE SPINAL MUSCULAR ATROPHY, JERASH TYPE HMNJ DSMA2 dHMNJ Autosomal recessive distal spinal muscular atrophy type 2 |
| Number of Symptoms | 18 |
| OrphanetNr: | 139552 |
| OMIM Id: |
605726
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| ICD-10: |
G12.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive distal hereditary motor neuropathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003431) | Decreased motor nerve conduction velocity | 51 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0009027) | Foot dorsiflexor weakness | 45 / 7739 | ||||
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(HPO:0001171) | Split hand | rare [HPO:skoehler] | 72 / 7739 | |||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0001765) | Hammertoe | 63 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Distal limb atrophy (upper and lower) | 1 / 7739 | ||||
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(OMIM) | Pyramidal tract involvement | 1 / 7739 | ||||
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(OMIM) | High-stepping gait | 1 / 7739 | ||||
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(OMIM) | Diffuse hyporeflexia (later) | 1 / 7739 | ||||
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(OMIM) | Brisk knee reflexes (early-on) | 1 / 7739 | ||||
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(OMIM) | Loss of myelinated fibers with regenerative clusters on biopsy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Christodoulou et al. (2000) identified a novel form of autosomal recessive distal hereditary motor neuropathy in 27 patients belonging to a cluster of 7 consanguineous families from neighboring villages of the Jerash region of Jordan. Onset of the ... |