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Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
Features include very common findings: Inner ear hearing loss (sensorineural hearing impairment) and Bulbar palsy; and common findings: Weak voice, Distal muscle weakness, Babinski sign, and Distal amyotrophy and others. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 5 | Distal muscle weakness, Hyperactive deep tendon reflexes, Limb fasciculations |
Phenotype severity distribution: 2 very common features, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Madras motor neuron disease.
5 publications have been identified in PubMed for Madras motor neuron disease. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Boomsma A (2026). [PMID: 41563518](https://pubmed.ncbi.nlm.nih.gov/41563518/). *Journal of neurology*. [Review / Meta-Analysis]
Heidari M (2025). [PMID: 40787273](https://pubmed.ncbi.nlm.nih.gov/40787273/). *Iranian journal of child neurology*. [Case Report / Case Series]
V S (2024). [PMID: 38600592](https://pubmed.ncbi.nlm.nih.gov/38600592/). *Neurological research and practice*. [Case Report / Case Series]
Saboo K (2024). [PMID: 38854224](https://pubmed.ncbi.nlm.nih.gov/38854224/). *Cureus*. [Case Report / Case Series]
Hamoudi Z (2024). [PMID: 39073591](https://pubmed.ncbi.nlm.nih.gov/39073591/). *G3 (Bethesda, Md.)*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Madras motor neuron disease
Brain and nerves |
3 |
Babinski sign, Limb fasciculations, Difficulty swallowing (dysphagia) |
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Tinnitus |
Eyes | 2 | Visual impairment, Damage to the optic nerve (optic atrophy) |
Arms and legs | 1 | Limb fasciculations |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Head and neck | 1 | Facial palsy |
AI-curated news mentioning Madras motor neuron disease
Updated Sep 18, 2026
A groundbreaking RNA therapy has shown improvement in a patient with a rare motor neuron disease, marking a significant advancement in treatment options. This case highlights the potential of RNA-based therapies in addressing challenging neurological conditions.
A case report highlights a de novo FUS frameshift variant (p.Gly501Valfs*30) associated with tremor and extrapyramidal features in young-onset motor neuron disease. This discovery may provide insights into the genetic underpinnings of this condition.
A new study published in PubMed outlines the nationwide epidemiology of motor neuron diseases in Latvia from 2020 to 2024, detailing incidence, prevalence, and clinical characteristics. This research provides valuable insights into the disease landscape in the region.