Metachromatic leukodystrophy (MLD): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Metachromatic leukodystrophy (MLD): clinical features. Delayed milestones, Falls, Ataxia, Seizures, Bulbar symptoms. Fully referenced neurology checklist.
Early onset MLD
- Delayed milestones
- Falls
- Ataxia
- Seizures
- Bulbar symptoms
- Spasticity
- Reduced reflexes
- Optic atrophy
Late onset MLD
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References
- Alves D, Pires MM, Guimaraes A, Miranda MC. Four cases of late onset metachromatic leucodystrophy in a family: clinical, biochemical and neuropathological studies. JNNP 1986; 49:1417-1422.
- Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M. Late onset MLD with normal nerve conduction associated weigh two novel missense mutations in the ASA gene. JNNP 2004; 75:655-657.
- Fenu S, Castellotti B, Farina L, et al. Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy. Neurology 2019; 93:310-312.
- Kolnikova M, Jungova P, Skopkova M, et al. Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene. J Mol Neurosci 2019; 67:559-563.
- Cesani M, Lorioli L, Grossi S, et al. Mutation Update of ARSA and PSAP genes causing metachromatic leukodystrophy. Hum Mutat 2016; 37:16-27.
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