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221 Possible Causes for Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Onion Bulb Formations (Nerve Biopsy)

Did you mean: Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Onion Bulb Formations (Nerve Biopsy

  • Hereditary Areflexic Dystasia

    Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lévy syndrome (RLS) being considered a variant[ncbi.nlm.nih.gov] Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy‐Lévy syndrome (RLS) being considered a variant[doi.org] formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.[genecards.org]

    Missing: Mild Rib Sclerosis
  • Déjerine-Sottas Disease

    A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[ncbi.nlm.nih.gov] acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[kidbones.net] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease[mda.org.au]

    Missing: Mild Rib Sclerosis
  • Hypomyelinating Leukodystrophy Type 5

    […] of small onion bulbs near Schwann cell processes.[clinicalgate.com] Sural nerve biopsy in several patients revealed lack of myelinated nerve fibres, thin, noncompacted myelin surrounding the few myelinated axons, and, in some cases, formation[clinicalgate.com]

    Missing: Mild Rib Sclerosis
  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] The changes involve areas of bone sclerosis intermingled with areas of resorption.[doi.org]

    Missing: Onion Bulb Formations (Nerve Biopsy)
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)
  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)
  • Barth Syndrome

    acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children[verywellhealth.com] […] of gross motor skills.[rarediseases.org] Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[medium.com]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)
  • Rigid Spine Syndrome

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD.[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…][clinicaltrials.gov]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)
  • Limb-Girdle Muscular Dystrophy Type 2Q

    Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Onion Bulb Formations (Nerve Biopsy)

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