Juvenile amyotrophic lateral sclerosis
| Classification according to ICD-10 | |
|---|---|
| G12.2 | Motor neuron disease - lateral sclerosis, myatrophic (amyotrophic) |
| ICD-10 online (WHO version 2019) | |
The Juvenile Amyotrophic Lateral Sclerosis (JALS) is a very rare, to the motor neuron diseases scoring congenital disease with the main features of a progressive neurodegeneration beginning in childhood or young adulthood.
Synonyms are: Charcot's disease, juvenile; JALS; Lou Gehrig's disease, juvenile; Chronic juvenile ALS
The name refers to the American baseball player Lou Gehrig .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
Depending on the known causal mutations , the following forms can be distinguished:
- ALS2 with mutations in ALS2 - gene at locus 2q33.1
- ALS5 with mutations in the SPG11 gene at 15q23.1
- ALS16 with mutations in the SIGMAR1 gene at 9p13.3
Clinical manifestations
Clinical criteria are: Degeneration of the motor neurons beginning in (late) childhood with spasticity of the facial muscles, speech disorders ( dysarthria ) and sometimes pseudobulbar paralysis .
diagnosis
The diagnosis is based on the clinic, motor evoked potentials are absent or reduced, electromyography shows signs of denervation, the nerve conduction velocity is normal, as is magnetic resonance tomography .
Differential diagnosis
Must be distinguished are Juvenile Primary Lateral Sclerosis and the Infantile ascending hereditary spastic paralysis .
therapy
The treatment aims to maintain mobility.
Individual evidence
- ↑ a b c d Amyotrophic lateral sclerosis, juvenile. In: Orphanet (Rare Disease Database).
- ↑ Amyotrophic lateral sclerosis 2, juvenile. In: Online Mendelian Inheritance in Man . (English)
- ↑ Amyotrophic lateral sclerosis 5, juvenile. In: Online Mendelian Inheritance in Man . (English)
- ↑ Amyotrophic lateral sclerosis 16, juvenile. In: Online Mendelian Inheritance in Man . (English)
