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1,857 Possible Causes for Cerebellar Hypoplasia, Hypoplastic Pons, Muscle Biopsy Shows Dystrophic Changes

  • Congenital Muscular Dystrophy

    Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical[ncbi.nlm.nih.gov] Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.[ncbi.nlm.nih.gov] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org]

  • Congenital Merosin-Positive Muscular Dystrophy

    […] midbrain, vermian hypoplasia /- cephalocele Described features in general include: cobblestone brain myelination defects Z-shaped brainstem/hypoplastic vermis ventriculomegaly[radiopaedia.org] Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov]

  • Amish Lethal Microcephaly

    Showing of 33 80%-99% of people have these symptoms Cerebellar vermis hypoplasia 0001320 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Feeding difficulties[rarediseases.info.nih.gov] hypoplasia.[jhu.pure.elsevier.com] hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Congenital onset Symptoms present at birth 0003577 Flexion contracture Flexed joint that cannot be[rarediseases.info.nih.gov]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Cranial magnetic resonance imaging showed cerebellar cysts and hypoplasia of the vermis and muscle biopsy showed dystrophic changes.[cags.org.ae] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com] . • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.[medlink.com]

    Missing: Hypoplastic Pons
  • Limb-Girdle Muscular Dystrophy Type 2J

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de] hypoplasia; LGMD2V GAA / Acid maltase (late-onset Pompe variant) Late childhood to early adulthood Variable Variable Rigid spine; distal contractures; scapular wining Ptosis[now.aapmr.org]

    Missing: Hypoplastic Pons
  • Muscular Dystrophy-Dystroglycanopathy Type B6

    - callosal dysgenesis CMD 4 : Walker-Warburg syndrome , most severe , with cobblestone brain, massive ventriculomegaly with absent/abnormal callosum, no myelin, kinked pons[radiopaedia.org] Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] The person with this form of congenital muscular dystrophy might have mild cerebellar hypoplasia in some cases . [1] [4] CMD/LGMD without MR [4] -first years of a newborn[en.wikipedia.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Note the rough cobblestone brain surface, the cerebellar hypoplasia ( arrow ), and the abnormal vasculature.[ncbi.nlm.nih.gov] The brain manifests cobblestone lissencephaly with agenesis of the corpus callosum, cerebellar hypoplasia, hydrocephaly, and sometimes encephalocele ( fig. 1 ).[ncbi.nlm.nih.gov] Hypoplasia of the cerebellar vermis was seen in the posterior cranial fossa. Ophthalmological examination showed buphthalmos, retinal dysplasia, and lens opacities.[ncbi.nlm.nih.gov]

    Missing: Hypoplastic Pons
  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] His echocardiogram showed normal findings [Figure 2]. His serum CPK level was 2120 U/l and MRI of the brain showed similar findings with other patients.[pediatricneurosciences.com]

    Missing: Hypoplastic Pons
  • Limb-Girdle Muscular Dystrophy Type 2B

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] hypoplasia; LGMD2V GAA / Acid maltase (late-onset Pompe variant) Late childhood to early adulthood Variable Variable Rigid spine; distal contractures; scapular wining Ptosis[now.aapmr.org] […] in morphology of muscles.[lecturio.com]

    Missing: Hypoplastic Pons
  • Distal Myopathy Type 3

    The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin.[ruralneuropractice.com] There are multiple brain CNS malformations including hydrocephalus, aqueductal stenosis, cerebellar hypoplasia, and cortical abnormalities.[sites.google.com] The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin.[scielo.br]

    Missing: Hypoplastic Pons

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