PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0235025|motor neuropathy |
| Sentences | 7 |
| PubMedID- 24030952 | The phenotype is usually an early-onset spastic ataxia with a sensorimotor neuropathy, although some cases present later. |
| PubMedID- 23147504 | Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or visceral disorders. |
| PubMedID- 25957632 | Our patient exhibited a distal motor neuropathy with ataxia and an extrapyramidal syndrome of tremor and focal dystonia—an inexact fit with the previously described phenotypes of dctn1. |
| PubMedID- 24253200 | Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. |
| PubMedID- 25927548 | Patients developed truncal and limb ataxia with a progressive sensory-motor neuropathy that led them to difficulty walk without help after 5–8 years of disease. |
| PubMedID- 20705737 | Novel, putative causative variants have recently been discovered for a variety of disorders [sensory/motor neuropathy with ataxia (32), clericuzio-type poikiloderma with neutropenia (33), familial exudative vitreoretinopathy (34), recessive non-syndromic hearing loss (35), talipes equinovarus, atrial septal defect, robin sequence, persistent left superior vena cava (36)] using genome capture to target linkage regions from the affected families. |
| PubMedID- 21619691 | Also known as autosomal dominant sensory/motor neuropathy with ataxia, sca18 presents initially with an axonal sensory neuropathy with cerebellar ataxia and motor neuron dysfunction developing later [98]. |
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