PedAM
Pediatric Disease Annotations & Medicines
| Disease | myoclonus |
| Phenotype | C0014070|encephalomyelitis |
| Sentences | 23 |
| PubMedID- 25491076 | Progressive encephalomyelitis with rigidity and myoclonus (perm) is at one end of the sps spectrum with the poorest prognosis, and usually these patients have no gad-antibodies [30]. |
| PubMedID- 21541785 | A case of glycine-receptor antibody-associated encephalomyelitis with rigidity and myoclonus (perm): clinical course, treatment and csf findings. |
| PubMedID- 25746075 | [a case of progressive encephalomyelitis with rigidity and myoclonus associated with anti-gad, anti-glycine receptor and anti-gm1 antibodies]. |
| PubMedID- 23813517 | Antiglycine receptor antibody and encephalomyelitis with rigidity and myoclonus (perm) related to small cell lung cancer. |
| PubMedID- 20110093 | Progressive encephalomyelitis with rigidity and myoclonus preceding otherwise asymptomatic hodgkin's lymphoma. |
| PubMedID- 23936697 | Anti-glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus associated with breast cancer. |
| PubMedID- 26106494 | Sps can be classified into classic sps, paraneoplastic sps, and sps variants (namely, focal or segmental sps, jerky sps, progressive encephalomyelitis with rigidity and myoclonus, and sps plus) [2]. |
| PubMedID- 23380884 | Importance: progressive encephalomyelitis with rigidity and myoclonus is characterized by rigidity, painful muscle spasms, hyperekplexia, and brainstem signs. |
| PubMedID- 23429048 | Background/aims: to better characterize progressive encephalomyelitis with rigidity and myoclonus (perm) syndrome and identify novel perm phenotypes. |
| PubMedID- 24291880 | Anti-glycine receptor (anti-glyr) antibodies were first reported in 2008 in a case of progressive encephalomyelitis with myoclonus and rigidity (perm), which is a variant of stiff-person syndrome (sps). |
| PubMedID- 22332190 | Seventy-nine patients (59 having classic sms, 19 having partial sms, and 1 having progressive encephalomyelitis with rigidity and myoclonus [perm]) were gad65 antibody seropositive. |
| PubMedID- 24461686 | A clinical variant of stiff person syndrome is the progressive encephalomyelitis with rigidity and myoclonus (perm), which includes neurological cognitive disturbances. |
| PubMedID- 22215239 | Glycine receptor antibodies are detected in progressive encephalomyelitis with rigidity and myoclonus (perm) but not in saccadic oscillations. |
| PubMedID- 23090334 | Objectives: to determine whether glycine receptor alpha1 subunit-specific autoantibodies (glyralpha1-igg) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. |
| PubMedID- 24696508 | Objective: to describe a novel and distinct variant of progressive encephalomyelitis with rigidity and myoclonus (perm) associated with antibodies directed against dipeptidyl peptidase-like protein 6 (dppx), a regulatory subunit of the kv4.2 potassium channels on the surface of neurons. |
| PubMedID- 22086169 | Thymoma-associated progressive encephalomyelitis with rigidity and myoclonus successfully treated with thymectomy and intravenous immunoglobulin. |
| PubMedID- 23564494 | Glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (perm): a rare but treatable neurological syndrome. |
| PubMedID- 24058450 | The clinical diversity of sps includes variants such as stiff limb syndrome, progressive encephalomyelitis with rigidity and myoclonus, jerking sps and paraneoplastic sps. |
| PubMedID- 25891831 | Glycine receptor antibodies and progressive encephalomyelitis with rigidity and myoclonus with predominant motor neuron degeneration--expanding the clinical spectrum. |
| PubMedID- 24951641 | Thirty-three patients were classified as progressive encephalomyelitis with rigidity and myoclonus, and two as stiff person syndrome; five had a limbic encephalitis or epileptic encephalopathy, two had brainstem features mainly, two had demyelinating optic neuropathies and one had an unclear diagnosis. |
| PubMedID- 25611646 | Progressive encephalomyelitis with rigidity and myoclonus (perm) is a rare autoimmune neurological condition. |
| PubMedID- 25743016 | Progressive encephalomyelitis with rigidity and myoclonus (perm) is a rare disease. |
| PubMedID- 24203856 | Progressive encephalomyelitis with rigidity and myoclonus is a rare autoimmune disorder causing rigidity, stimulus sensitive spasms, and myoclonus of nonepileptic origin and is associated with autoantibodies of multiple types including those against the glycine receptor. |
Page: 1