Pelizaeus–Merzbacher disease (PMD): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pelizaeus–Merzbacher disease (PMD): clinical features. Mild spastic paraparesis, Developmental delay. Fully referenced neurology checklist.
Clinical features
- Mild spastic paraparesis
- Developmental delay
- Feeding difficulties
- Cognitive impairment
- Hypotonia followed by spastic paraparesis/quadriparesis
- Nystagmus
- Visual impairment
- Impaired head control
- Dystonia
- Ataxia
- Choreoathetosis
- Hearing impairment
Differential diagnosis
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References
- Hoffman-Zacharska D, Mierzewska H, et al. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. Med Wieku Rozwoj 2013; 17:293-300.
- Laukka JJ, Stanley JA, Garbern JY, et al. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. J Neurol Sci 2013; 335:75-81.
- Wolf NI, Sistermans EA, Cundall M, et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005; 128:743-751.
- Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Auditory function in Pelizaeus-Merzbacher disease. J Neurol 2018; 265:1580-1589.
- Lossos A, Elazar N, Lerer I, et al. Myelin-associated glycoprotein gene mutation causes Palizeus-Marzbacher disease-like disorder. Brain 2015; 138:2521-2236.
