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Results 91 - 100 of 130 for Brain atrophy
  1. Centronuclear myopathy 
    ... condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles ... individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  2. Mucopolysaccharidosis type VI 
    ... become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition. ... cell death. The loss of cells leads to atrophy of tissues and organs over time in MPS ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  3. DYNC1H1 gene 
    ... thought to contribute to the muscle weakness and atrophy experienced by people with ... have a brain malformation called polymicrogyria. Normally, the surface of the ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  4. SEPSECS gene 
    ... Researchers also refer to PCH2D as progressive cerebellocerebral atrophy ... to abnormal brain development in people with PCH2D. More About This ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  5. Pelizaeus-Merzbacher disease 
    ... Boespflug-Tanguy O. Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1- ... mutations in Chinese patients with Pelizaeus-Merzbacher disease. Brain Dev. 2015 Sep;37(8):797-802. doi: ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  6. Myotonic dystrophy 
    ... the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  7. GRN-related frontotemporal lobar degeneration 
    ... H, Wszolek ZK, Kantarci K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a ... carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008 Mar;131(Pt 3):732-46. doi: ...
    https://medlineplus.gov/...related-frontotemporal-lobar-degeneration - Genetics
  8. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a ... methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. doi: ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  9. Aceruloplasminemia 
    ... small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities ... Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. doi: ...
    https://medlineplus.gov/genetics/condition/aceruloplasminemia - Genetics
  10. Microcephaly, seizures, and developmental delay 
    ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
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