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2,109 Possible Causes for Cerebellar Hypoplasia, High Pitched Voice, 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] […] palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Increased variability in muscle fiber diameter 0003557 Infantile onset Onset in[rarediseases.info.nih.gov] 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] […] 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: High Pitched Voice
  • Congenital Muscular Dystrophy due to LMNA Mutation

    pitched voice Intermittent episodes of respiratory insufficiency due to muscle weakness Limited neck flexion Increased muscle lipid content Nocturnal hypoventilation Muscle[mendelian.co] Muscle biopsies showed dystrophic changes in nine children and nonspecific myopathic changes in the remaining.[ncbi.nlm.nih.gov] hypoplasia, and epilepsy.[treatneuro.com]

  • Pfeiffer-Palm-Teller Syndrome

    Voice Annotation Sufficiency: ?[monarchinitiative.org] Pontoneocerebellar Hypoplasia[?] Popliteal pterygium syndrome lethal type[?] Popliteal pterygium syndrome[?] Porencephaly cerebellar hypoplasia malformations[?][encyclopedia.kids.net.au] Popliteal pterygium syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis[bioreference.net]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • 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: High Pitched Voice
  • 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: High Pitched Voice
  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] VLDLR -Associated Cerebellar Hypoplasia Kym M Boycott and Jillian S Parboosingh. Initial Posting: August 26, 2008; Last Update: August 8, 2013.[ncbi.nlm.nih.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • 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: High Pitched Voice
  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[checkrare.com] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

    Missing: Muscle Biopsy Shows Dystrophic Changes

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