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1,866 Possible Causes for Cerebellar Hypoplasia, Muscle Biopsy Shows Dystrophic Changes, Muscle MRI Shows Fatty Infiltration

  • 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] Muscle tissue in patients with Limb girdle muscular dystrophy type 2I who have the founder mutation c.545A G in FKRP shows a distinctive concentric pattern of fatty infiltration[ncbi.nlm.nih.gov] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    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] Cardiomyopathy-rare; impaired cognition (50%) LGMD2U ISPD / isoprenoid-synthase domain-containing protein Very High Moderate Proximal weakness Myopia; Oculomotor apraxia; cerebellar[now.aapmr.org]

  • Congenital Merosin-Positive Muscular Dystrophy

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] Muscle MRI, performed at 29 years of age, showed severe and diffuse fatty infiltration of the proximal muscles, lumbar extensors, and abdominal wall muscles.[content.iospress.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]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Muscle MRI, performed at 29 years of age, showed severe and diffuse fatty infiltration of the proximal muscles, lumbar extensors, and abdominal wall muscles.[content.iospress.com] Muscle biopsy showed dystrophic changes, substantial fatty replacement, and fiber size variation.[link.springer.com] […] atrophy [2] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[ipfs.io]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    Muscle MRI findings MRI findings of the patient, 97-1 ( Fig 3 ), revealed: At Pelvis: gluteus maximus showed stage 2b fatty infiltration and iliopsoas showed stage 2a involvement[journals.plos.org] Muscle biopsy showed dystrophic changes with normal expression of dystrophin and various proteins of the dystrophin-associated protein complex (sarcoglycan sub-units, dystroglycan[ncbi.nlm.nih.gov] 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]

  • 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: Muscle MRI Shows Fatty Infiltration
  • Congenital Muscular Dystrophy

    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] The muscle biopsy showed dystrophic changes with negative expression of merosin (laminin α2), thereby confirming merosin-deficient congenital muscular dystrophy.[ncbi.nlm.nih.gov]

    Missing: Muscle MRI Shows Fatty Infiltration
  • 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: Muscle MRI Shows Fatty Infiltration
  • 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: Muscle MRI Shows Fatty Infiltration
  • 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: Muscle MRI Shows Fatty Infiltration

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