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34 Possible Causes for Cerebellar Hypoplasia, Kyphoscoliosis, 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] Children born with CMD often have muscle weakness or ’floppiness’ and can also have stiffness of the joints, hip dislocation and a type of curvature of the spine known as ’kyphoscoliosis[santhera.com]

  • 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] Spine rigidity FIGURE 18.6 Joint laxity in Ullrich congenital muscular dystrophy with collagen VI abnormality. and kyphoscoliosis have been noted.[academlib.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] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com] The characteristic symptoms of this form of CMD are diminished muscle tone (hypotonia), muscle weakness, abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis[rarediseases.org]

  • 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]

  • 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] The characteristic symptoms of this form of CMD are diminished muscle tone (hypotonia), muscle weakness, abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis[rarediseases.org]

  • Distal Myopathy Type 3

    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] Patients should also be monitored over time for complications related to kyphoscoliosis or involvement of cardiac, respiratory, or bulbar muscles.[clevelandclinicmeded.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    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] All patients complained of back pain or stiffness as one of the prominent symptoms: hyperlordosis, kyphoscoliosis, or spinal fusion was found in all affected individuals.[nature.com] Young patients with early onset of sarcoglycan deficiency may develop orthopedic deformities (equinovarus, kyphoscoliosis, etc.) and should be treated accordingly with orthosis[annalsofian.org]

  • Congenital Fiber-Type Disproportion Myopathy

    Skeletal muscle biopsies of 2 affected individuals showed characteristic findings of CFTD without dystrophic changes.[genome.jp] The association with cerebellar hypoplasia was documented by Sarnat ( Sarnat 1985 ).[medlink.com] Clinical characteristics, including dysmorphic features such as hip dislocation, kyphoscoliosis, contracture, and high arch palate, were analyzed along with laboratory and[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Muscle biopsy showed dystrophic changes, substantial fatty replacement, and fiber size variation.[link.springer.com] […] atrophy [2] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[ipfs.io] Persons with UCMD commonly experience muscle weakness, kyphoscoliosis, hip dislocation at birth, prominent heel bones, hyper-pigmented skin lesions, hyper-extensible finger[disabled-world.com]

  • 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] 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] Patients should also be monitored over time for complications related to kyphoscoliosis or involvement of cardiac, respiratory, or bulbar muscles.[clevelandclinicmeded.com]

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