Create issue ticket

2,248 Possible Causes for Blepharoptosis, Cerebellar Hypoplasia, Muscle Biopsy Shows Dystrophic Changes

  • 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]

  • Congenital Merosin-Positive Muscular Dystrophy

    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] Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[tiptiktak.com]

    Missing: Blepharoptosis
  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.[abcam.com] […] syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis[en.wikipedia.org] hypoplasia, retinitis pigmentosa Fanconi anemia 17 FANCA, FACA, FA1, FA, FAA Anemia, leucopenia, thrombocytopenia; cardiac, renal and limb malformations; dermal pigment changes[endocrine.gr]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    They described female patient with typical clinical features for Malouf syndrome: small chin, bilateral blepharoptosis, long digits and hypothyroidism.[medcraveonline.com] Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.[ab-y-ss.com] Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: D-CHRAMPS syndrome.[jpma.org.pk]

  • 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: Blepharoptosis
  • Oculopharyngeal Muscular Dystrophy

    Like our family, they had elevated serum creatine kinase levels and muscle biopsies showed dystrophic changes with basophilic rimmed vacuoles.[brain.oxfordjournals.org] Progressive, usually symmetrical blepharoptosis, with or without dysphagia, appears during middle age. Muscular weakness in the limbs can be noted in some patients.[ncbi.nlm.nih.gov] PURPOSE: To clinically characterize blepharoptosis in Hispanic New Mexicans with oculopharyngeal muscular dystrophy and examine eyelid surgery outcomes.[ncbi.nlm.nih.gov]

    Missing: Cerebellar Hypoplasia
  • 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: Blepharoptosis
  • Smith Lemli Opitz Syndrome

    Clinical Characteristics Ocular Features: A large number of ocular anomalies have been found in SLO syndrome but the most common is blepharoptosis of some degree.[disorders.eyes.arizona.edu] hypoplasia and austism behaviors.[ncbi.nlm.nih.gov] Blepharoptosis in children: our experience at the light of literature. Clin Ter 2010;161:241–3. [24]. Jubbal KT, Kania K, Braun TL, et al. Pediatric blepharoptosis.[journals.lww.com]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • 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: Blepharoptosis
  • 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: Blepharoptosis

Similar symptoms