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1,883 Possible Causes for Cerebellar Hypoplasia, Creatine Kinase Normal or Mildly Increased, Muscle Biopsy Shows Dystrophic Changes

  • Congenital Merosin-Positive Muscular Dystrophy

    Serum creatine kinase can also be normal in the initial phases of the disorder or only mildly elevated, but tends to increase with age.[mrineonatalbrain.com] 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]

  • Distal Myopathy Type 3

    Table 2 Differential diagnosis of distal myopathies CREATINE KINASE The serum creatine kinase concentration may be helpful if it is increased but it may be normal or only[jnnp.bmj.com] 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]

  • Congenital Muscular Dystrophy

    Laboratory studies may show that serum creatine kinase concentrations are normal or mildly increased.[orpha.net] 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]

  • 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: Creatine Kinase Normal or Mildly Increased
  • 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: Creatine Kinase Normal or Mildly Increased
  • 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: Creatine Kinase Normal or Mildly Increased
  • 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: Creatine Kinase Normal or Mildly Increased
  • 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: Creatine Kinase Normal or Mildly Increased
  • 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]

    Missing: Creatine Kinase Normal or Mildly Increased
  • Congenital Fiber-Type Disproportion Myopathy

    Investigations  Sr CK- Normal to mildly elevated  Muscle ultrasound- increase in echogenecity  Muscle MRI-selective involvement of following thigh muscles- sartorius, adductor[slideshare.net] Skeletal muscle biopsies of 2 affected individuals showed characteristic findings of CFTD without dystrophic changes.[genome.jp] The association with cerebellar hypoplasia was documented by Sarnat ( Sarnat 1985 ).[medlink.com]

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