Lower motor neuron syndrome with late-adult onset
Synonyms: LOSMoN · Late-onset spinal motor neuronopathy · SMAJ · Spinal muscular atrophy, Jokela type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lower motor neuron syndrome with late-adult onset | LOSMoN · Late-onset spinal motor neuronopathy · SMAJ · Spinal muscular atrophy, Jokela type |
| fr | Syndrome du motoneurone inférieur, forme tardive de l'adulte | Amyotrophie spinale proximale type Jokela · LOSMoN · Neuronopathie motrice spinale de début tardif · SMAJ |
| de | Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter | LOSMoN · SMAJ · Spinale Muskelatrophie Typ Jokela |
| es | Síndrome de motoneurona inferior de inicio tardío en el adulto | AME Jokela · Atrofia muscular espinal, tipo Jokela · Neuronopatía motora espinal de inicio tardío |
| it | Sindrome dei motoneuroni inferiori ad esordio tardivo nell'età adulta | |
| nl | Lager motorneuron-syndroom met aanvang in de late volwassenheid | LOSMoN · SMAJ · Spinale motorische neuronopathie met late aanvang · Spinale musculaire atrofie, Jokela-type |
| pt | Síndrome do neurónio motor inferior com início tardio no adulto | |
| pl | Zespół dolnego motoneuronu osób dorosłych objawiający się w późnym wieku | = en |
| cs | Syndrom dolního motoneuronu s nástupem v pozdní dospělosti | = en |
| uk | Синдром нижнього моторного нейрона з пізнім початком у дорослому віці | Пізня спінальна моторна нейронопатія · LOSMoN · SMAJ · Спинальна мязова атрофія, тип Джокела |
| zh | 晚发性下运动神经元综合征 | Jokela型脊髓性肌萎缩症 |
| tr | Geç erişkin başlangıçlı alt motor nöron sendromu | SMAJ · Spinal kas atrofisi, Jokela tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615048 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B60.Y | NTBT | index | validated |
| MONDO | 0014025 | E | validated | |
| UMLS | C5191007 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:211037Autosomal dominant proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHCHD10 | Disease-causing germline mutation(s) in | Assessed | HGNC:15559 | ENSG00000250479 | 615903 | 22q11.23 | coiled-coil-helix-coiled-coil-helix domain containing 10 | 25428574[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | 25428574[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25428574[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2021-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0003449 | Cold-induced muscle cramps | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0002380 | Fasciculations | |
| HP:0001288 | Gait disturbance | |
| HP:0031921 | Gastrocnemius myalgia | |
| HP:0001265 | Hyporeflexia | |
| HP:0008985 | Increased intramuscular fat | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Occasional (29-5%) | ||
| HP:0040132 | Abnormal sensory nerve conduction velocity | |
| HP:0002015 | Dysphagia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0001308 | Tongue fasciculations | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0002483 | Bulbar signs | |
| HP:0002540 | Inability to walk | |
| Excluded (0%) | ||
| HP:0002493 | Upper motor neuron dysfunction | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28456383[PMID]_28434507[PMID]_26131548[PMID]_25428574[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276435
- This record as JSON: /data/d/276435.json