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827 Possible Causes for No Facial Muscle Involvement, Persistent Notochordal Canal, Proximal Muscle Weakness Limb Girdle Distribution

  • Limb-Girdle Muscular Dystrophy Type 2J

    muscle involvement; scapular winging High arched palate; scoliosis; A-V block; cardiomyopathy; Respiratory insufficiency LGMD2S TRAPPC11 / Trafficking particle subunit complex[now.aapmr.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Even though other muscles, including the muscles of facial expression and the eye muscles, may be involved later, these are not affected in the early stages of the illness[geneticsofpregnancy.com]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Familial Recurrent Peripheral Facial Palsy

    Electrodiagnostic studies (generally a research tool) reveal no changes in involved facial muscles for the first three days but a steady decline of electrical activity often[patient.info] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Late onset generalized myasthenia gravis presenting with facial weakness and bulbar signs without extraocular muscle involvement.[cambridge.org]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Limb-Girdle Muscular Dystrophy

    LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles.[ncbi.nlm.nih.gov] , the shoulder girdle muscles, or both, but not the facial muscles.[medical-dictionary.thefreedictionary.com] Introduction Limb girdle muscular dystrophy (LGMD) is a muscular dystrophy with predominantly proximal distribution of weakness that spares the distal, facial, and extraocular[circheartfailure.ahajournals.org]

    Missing: Persistent Notochordal Canal
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles Congenital heart defect-round face-developmental delay syndrome Congenital hereditary[se-atlas.de] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Congenital insensitivity[se-atlas.de]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Distal Hereditary Motor Neuropathy Type 1

    Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles Congenital heart defect-round face-developmental delay syndrome Congenital hereditary[se-atlas.de] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Congenital insensitivity[se-atlas.de]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • X-linked Distal Spinal Muscular Atrophy Type 3

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Wasting of distal more than proximal muscles and prominent lower limb involvement was noted.[annalsofian.org] Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility.[patient.info]

    Missing: Persistent Notochordal Canal
  • Emery-Dreifuss Muscular Dystrophy Type 2

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] muscle involvement; scapular winging High arched palate; scoliosis; A-V block; cardiomyopathy; Respiratory insufficiency LGMD2S TRAPPC11 / Trafficking particle subunit complex[now.aapmr.org] FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles.[5wo.tatter.us]

    Missing: Persistent Notochordal Canal
  • Nemaline Myopathy

    Because facial muscles are involved, affected individuals may develop distinctive facial features including an elongated face, a displaced jaw that is farther back than normal[rarediseases.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] muscles are involved in NM takeover, elongated faces and a lower mandible are often observed in people with NM.[en.wikipedia.org]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Symptoms include pharyngeal muscle weakness (muscles that are involved in swallowing), weak facial muscles, progressive loss of speech, and tongue muscle atrophy.[advancedpsy.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] It more commonly develops in the limbs, later involving the trunk, neck and facial muscles.[abc.net.au]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Emery-Dreifuss Muscular Dystrophy Type 1

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Patients typically present with slowly progressive, symmetric, proximal muscle weakness with or without facial involvement and diminished or absent tendon reflexes.[merckmanuals.com] Muscles in charge of eye closure, facial expression, talking, swallowing, breathing, and moving upper or lower extremities might be involved to various extents in different[my.clevelandclinic.org]

    Missing: Persistent Notochordal Canal