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8 Possible Causes for EMG Shows Neurogenic Abnormalities, Facial Muscle Weakness and Progressive Atrophy, Onset: Infancy to Young Adulthood

  • Spinal Muscular Atrophy Type 1

    Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy.[ncbi.nlm.nih.gov] We present a baby with spinal muscular atrophy type 1, an inherited disorder causing progressive weakness, leading to complete paralysis of respiratory, facial and limb muscles[ncbi.nlm.nih.gov] Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info]

  • Distal Spinal Muscular Atrophy Type 3

    Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 Prevalence: Inheritance: X-linked recessive Age of onset: Adolescent , Adult , Infancy[orpha.net] They may present with muscle weakness in early infancy.[explainmedicine.com]

  • Spinal Muscular Atrophy Type 4

    Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] -PT's can play a major role in the care and management of this population from infancy through transition to adulthood.[quizlet.com] Manifestations may begin in infancy or childhood.[merckmanuals.com]

  • Spinal Muscular Atrophy Type 2

    Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] . : Progressive spinal muscular atrophy with onset in infancy or early childhood . Acta Paed. Scand., 56: 408–423, 1967.[link.springer.com] Patients typically present during infancy or early childhood with progressive weakness, hypotonia , muscle atrophy , hyporeflexia/areflexia, and varying degrees of bulbar[amboss.com]

  • Distal Hereditary Motor Neuropathy Type 2

    weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] HMSN type 3 may be caused by a nonsense mutation in the PMP22 gene.19 causing infancy Dejerine-Sottas disease. [9] Hereditary motor and sensory neuropathy (HMSN) type 4 Hereditary[explainmedicine.com] Hmsn iii refers to hypertrophic neuropathy of infancy. Hmsn iv refers to refsum disease.[icd10data.com]

  • Distal Hereditary Motor Neuropathy Type 2A

    weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] HMSN type 3 may be caused by a nonsense mutation in the PMP22 gene.19 causing infancy Dejerine-Sottas disease. [9] Hereditary motor and sensory neuropathy (HMSN) type 4 Hereditary[explainmedicine.com] Hmsn iii refers to hypertrophic neuropathy of infancy. Hmsn iv refers to refsum disease.[icd10data.com]

  • Fingerprint Body Myopathy

    The EMG shows firing of motor units, reflecting an origin from spontaneous neural discharge.[basicmedicalkey.com] Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia.[scipers.com] Usually, the congenital myopathies present in infancy as generalized hypotonia and weakness. Motor milestones are typically delayed.[neurology.mhmedical.com]

  • X-Linked Scapuloperoneal Myopathy

    The EMG shows firing of motor units, reflecting an origin from spontaneous neural discharge.[basicmedicalkey.com] Signs: there is ptosis, facial weakness, atrophy of the sternocieidomastoid muscles, cataracts, and decreased intelligence.[academic.sun.ac.za] Patients with CCD have hypotonia and weakness at birth or starting in infancy. Most patients have a normal lifespan but severe forms of CCD may be fatal in infancy.[neuropathology-web.org]

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