disease 2,156 words KG: ent-dise-00fa7311
Contents

progressive-muscular-atrophy

Disease Info
PrevalenceDue to its rarity and diagnostic variability, precise incidence data are limited. Estimates range from 0.02–0.04 per 100,000 person-years in population-based studies.
Proportion of MNDPMA represents approximately 2.5–11% of all adult-onset Motor Neuron Disease cases.
SexStrong male predominance with a male-to-female ratio of approximately 4–5:1 (compared to ~1.5:1 in classic ALS).
Age at onsetTypically in the 5th–6th decade, though onset can range from the 3rd to 8th decade. Mean age at onset is approximately 50 years.
Geographic distributionNo clear geographic clustering, though ascertainment varies by diagnostic criteria used.
protein-aggregationAccumulation of ubiquitinated inclusions in anterior horn cells.
Selective motor neuron vulnerabilityPreferential degeneration of alpha motor neurons in the ventral horn of the spinal-cord, with relative sparing of oculomotor and Onuf's nucleus neurons.
oxidative-stressElevated markers of oxidative damage in degenerating motor neurons [@research]<!-- --> [@riku2014].
neuroinflammationActivated microglia contribute to motor neuron damage
[SOD1](/genes/sod1) mutationsRare cases of PMA have been associated with SOD1 mutations, particularly those associated with LMN-predominant ALS phenotypes (e.g., A4V, D90A).
[C9orf72](/genes/c9orf72)Hexanucleotide repeat expansion in C9orf72 has been identified in some PMA patients, particularly those with LMN-predominant presentations and FTD features.
[FUS](/genes/fus)Mutations occasionally associated with PMA phenotype, especially in younger-onset cases with basophilic inclusion body disease.
DatabasesOMIMOrphanetClinicalTrialsPubMed

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