Create issue ticket

48 Possible Causes for Cerebellar Hypoplasia, Congestive Heart Failure, 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] , lung, and various body tissues (congestive heart failure).[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]

  • Congenital Merosin-Positive Muscular Dystrophy

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] , lung, and various body tissues (congestive heart failure).[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]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    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] LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.[genscript.com]

  • 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] Congestive Heart failure Hypoglycemia – Low blood sugar may lead to floppiness of the muscles Myasthenia gravis – is an autoimmune disease that disrupts signals between nerves[news-medical.net] […] 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] Keywords: limb girdle muscular dystrophy, severe cardiomyopathy, congestive heart failure, cerebral infarction, cardioembolic stroke, left ventricular apical thrombus Copyright[pubs.sciepub.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]

  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Keywords: limb girdle muscular dystrophy, severe cardiomyopathy, congestive heart failure, cerebral infarction, cardioembolic stroke, left ventricular apical thrombus Copyright[pubs.sciepub.com] Note the rough cobblestone brain surface, the cerebellar hypoplasia ( arrow ), and the abnormal vasculature.[ncbi.nlm.nih.gov] Cardiac transplantation has been effective in some patients with LGMD1B and other subtypes who succumbed to end stage congestive heart failure [ 18, 19 ].[pubs.sciepub.com]

  • 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] Keywords: limb girdle muscular dystrophy, severe cardiomyopathy, congestive heart failure, cerebral infarction, cardioembolic stroke, left ventricular apical thrombus Copyright[pubs.sciepub.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]

  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] , lung, and various body tissues (congestive heart failure).[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]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    Keywords: limb girdle muscular dystrophy, severe cardiomyopathy, congestive heart failure, cerebral infarction, cardioembolic stroke, left ventricular apical thrombus Copyright[pubs.sciepub.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] Severely abnormal ejection fraction can occur in about 10% of patients and may cause symptomatic congestive heart failure. Rhythm abnormalities are not present.[emedicine.medscape.com]

  • Distal Myopathy Type 3

    The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin.[ruralneuropractice.com] heart failure ( 17 39 40 ).[jnnp.bmj.com] There are multiple brain CNS malformations including hydrocephalus, aqueductal stenosis, cerebellar hypoplasia, and cortical abnormalities.[sites.google.com]

Similar symptoms