Create issue ticket

64 Possible Causes for Cerebellar Hypoplasia, Muscle Biopsy showing Variation In Fiber Size

  • Congenital Merosin-Positive Muscular Dystrophy

    (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] 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] Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[tiptiktak.com]

  • Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[ncbi.nlm.nih.gov] MRI findings include pontine and cerebellar hypoplasia, although 4 patients had no abnormalities. Muscle biopsy showed reduced a-dystroglycan glycosylation.[emedicine.medscape.com] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] hypoplasia.[ncbi.nlm.nih.gov] Muscle biopsy shows evidence of a dystrophy with random variation in fiber size and evidence of degeneration and regeneration. Type one fibers may predominate.[ncbi.nlm.nih.gov]

  • Rigid Spine Syndrome

    Muscle biopsy performed in the older brother showed increase in fibrosis, variation in fiber size, type I fibre predominance, and the presence of central and eccentric cores[cags.org.ae] CMD with cerebellar involvement. Cerebellar abnormalities may include cysts or other signs of cerebellar dysplasia or hypoplasia [ Mercuri et al 2006 ].[ncbi.nlm.nih.gov] Muscle biopsies in all four patients showed similar changes.[bioline.org.br]

  • Limb-Girdle Muscular Dystrophy Type 2B

    EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.org] 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 Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[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] Muscle biopsy in all our patients showed a dystrophic picture with extensive pericellular fibrosis, fiber size variation, and rounding.[annalsofian.org]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    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] In some individuals with CMD, muscle biopsy may only show fiber size variation with absence of or only mild manifestations of fibrosis, necrosis, or regeneration [ Wang et[ncbi.nlm.nih.gov]

  • Arthrogryposis due to Muscular Dystrophy

    Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue.[pediatricneuro.com] hypoplasia, FG syndrome, Mental retardation XL 87 112 CFL2 Nemaline myopathy AR 2 9 CHAT Myasthenic syndrome, congenital AR 24 73 CHRNA1 Myasthenic syndrome, congenital AD[blueprintgenetics.com] […] contracture syndrome 9 AR 4 4 AGRN Myasthenic syndrome, congenital AR 14 16 BIN1 Myopathy, centronuclear AR 9 15 CASK Mental retardation and microcephaly with pontine and cerebellar[blueprintgenetics.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.org] hypoplasia.[moh-it.pure.elsevier.com] Elevated CK levels, cerebral cortical atrophy, and cerebellar vermis hypoplasia were constant findings.[n.neurology.org]

  • Aqueduct of Sylvius Anomaly

    Muscle biopsy studies showed mild variation in fiber size with normal fiber type distribution. There was a punctated cataract in both cases.[jstage.jst.go.jp] 1.35% (1/74 anomalies), in case MDB315 Cerebellar hypoplasia 1.35% (1/74 anomalies), in case MDB315 Macrostomia 1.35% (1/74 anomalies), in case MDB315 Dandy-Walker malformation[malformations.org] […] of chromosomal anomalies and syndromes. 11,21 Cerebellar hypoplasia Cerebellar hypoplasia may be diffuse or can be limited to a single hemisphere and may involve the vermis[appliedradiology.com]

Further symptoms

Similar symptoms