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44 Possible Causes for Cerebellar Hypoplasia, Muscle Biopsy Shows Dystrophic Changes, Shoulder Girdle Weakness

  • Congenital Merosin-Positive Muscular Dystrophy

    Decreased lung function due to weak breathing muscles 0002747 Scoliosis Abnormal curving of the spine 0002650 Shoulder girdle muscle weakness Weak shoulder muscles 0003547[rarediseases.info.nih.gov] 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]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] 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] […] dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle[orpha.net]

  • Limb-Girdle Muscular Dystrophy Type 2J

    An autosomal recessive degenerative myopathy (OMIM:608807) characterised by progressive weakness of the pelvic and shoulder girdle muscles.[medical-dictionary.thefreedictionary.com] 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]

  • Limb-Girdle Muscular Dystrophy Type 2B

    Erb\'s patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne[checkorphan.org] 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]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.com] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013).[ncbi.nlm.nih.gov] 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]

  • Muscular Dystrophy-Dystroglycanopathy Type C1

    girdle weakness and wasting, gradually progressive.[learningneurology.com] Note the rough cobblestone brain surface, the cerebellar hypoplasia ( arrow ), and the abnormal vasculature.[ncbi.nlm.nih.gov] Description The term limb-girdle muscular dystrophy (LGMD) refers to a group of rare, inherited disorders which predominantly affect the muscles around the shoulder girdle[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.com] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org] These siblings also had underdevelopment of the cerebellum (cerebellar hypoplasia), which can cause problems with balance and coordination.[rarediseases.org]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Other features included significant facial weakness, hypertrophy of the lower limb muscles, wasting of the shoulder girdle with pronation of the forearm, contractures of the[link.springer.com] 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]

  • Distal Myopathy Type 3

    Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.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]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    […] dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle[orpha.net] Muscle biopsy showed dystrophic changes with normal expression of dystrophin and various proteins of the dystrophin-associated protein complex (sarcoglycan sub-units, dystroglycan[ncbi.nlm.nih.gov] 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]

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