PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypotonia |
| Phenotype | C0442874|neuropathy |
| Sentences | 2 |
| PubMedID- 24708634 | Infantile-onset spinocerebellar ataxia is a severe autosomal recessive neurodegenerative disorder that manifests itself after 9-18 months of age through progressive atrophy of the cerebellum, brain stem and spinal cord, ataxia during the first two years of life, hypotonia with sensory axonal neuropathy, optic atrophy, hearing impairment and ophthalmoplegia [6]. |
| PubMedID- 21840889 | First, a nerve (and muscle) biopsy can be helpful in differentiating peripheral neuropathy from other causes of severe hypotonia in newborns. |
Page: 1