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45 Possible Causes for Cerebellar Hypoplasia, Muscle Biopsy Shows Dystrophic Changes, Myopia

  • Congenital Muscular Dystrophy

    Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.[ncbi.nlm.nih.gov] Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases.[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

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] Individuals with FCMD also have eye (ocular) abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases[rarediseases.org] 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]

  • 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] Individuals with FCMD also have eye (ocular) abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases[rarediseases.org] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com]

  • 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] Rhabdomyolysis and cramps Cardiomyopathy-rare; impaired cognition (50%) LGMD2U ISPD / isoprenoid-synthase domain-containing protein Very High Moderate Proximal weakness Myopia[now.aapmr.org] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de]

  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] Individuals with FCMD also have eye (ocular) abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases[rarediseases.org] […] 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]

  • 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] Rhabdomyolysis and cramps Cardiomyopathy-rare; impaired cognition (50%) LGMD2U ISPD / isoprenoid-synthase domain-containing protein Very High Moderate Proximal weakness Myopia[now.aapmr.org] […] in morphology of muscles.[lecturio.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    Rhabdomyolysis and cramps Cardiomyopathy-rare; impaired cognition (50%) LGMD2U ISPD / isoprenoid-synthase domain-containing protein Very High Moderate Proximal weakness Myopia[now.aapmr.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] […] hypertrophy; scapular winging; skeletal lordosis LGMD2O POMGnT1 / protein O-glucosaminyl transferase Early to late childhood Mildly elevated Moderate Congenital hypotonia Myopia[now.aapmr.org]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Muscle biopsy showed dystrophic changes, substantial fatty replacement, and fiber size variation.[link.springer.com] Individuals with FCMD also have eye (ocular) abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases[rarediseases.org] […] atrophy [2] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[ipfs.io]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013).[ncbi.nlm.nih.gov] Rhabdomyolysis and cramps Cardiomyopathy-rare; impaired cognition (50%) LGMD2U ISPD / isoprenoid-synthase domain-containing protein Very High Moderate Proximal weakness Myopia[now.aapmr.org] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.[uniprot.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Muscle biopsy showed dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan.[link.springer.com] POMGNT1 mutations may be associated with congenital glaucoma, retinal dysplasia, and high myopia.[disorders.eyes.arizona.edu] hypoplasia.[moh-it.pure.elsevier.com]

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