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310 Possible Causes for Distal Limb Muscle Weakness and Atrophy, Loss of Ambulation between Third and Sixth Decade, Persistent Notochordal Canal

  • Limb-Girdle Muscular Dystrophy Type 2J

    weakness pattern, however, some may have a distal weakness, atrophy/hypertrophy, or muscle sparing as detailed in the tables below.[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] Disease progression including natural history, disease phases or stages, disease trajectory (Clinical features and presentation over time) All variants of LGMD present with a limb-girdle[now.aapmr.org]

  • Distal Hereditary Motor Neuropathy Type 1

    […] disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment.[orpha.net] 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] […] hereditary motor, 2D (HMN2D) [MIM:615575]: A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades[genecards.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Distal Hereditary Motor Neuropathy

    […] motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy.[miami.pure.elsevier.com] 20 May 2017 Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterised by distal limb muscle weakness and atrophy.[institut-myologie.org] Abstract Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy.[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Limb-Girdle Muscular Dystrophy Type 2G

    UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy[malacards.org] A rare autosomal recessive degenerative myopathy (OMIM:601954) characterised by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle[medical-dictionary.thefreedictionary.com] Limb-girdle muscular dystrophy 2G (LGMD2G) [MIM:601954]: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the[genecards.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Lower Motor Neuron Syndrome with Late-Adult Onset

    ALS5 typically presents in the teenage years with progressive limb spasticity, distal limb weakness, and muscle atrophy.[clinicalgate.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] Initial features are either those of dysfunction of the lower motor neuron (fatigue, weakness of distal limb muscles e.g. drop foot, muscle atrophy e.g. wasted small hand[neuroweb.us]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Scapuloperoneal Spinal Muscular Atrophy

    Weakness and atrophy in the lower extremities are usually followed by problems with the pectoral girdle, facial muscles, distal limb, and bulbar muscles.[encyclopedia.com] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral[orpha.net]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Nemaline Myopathy

    Limb-girdle weakness and atrophy are the main symptoms.[em-consulte.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] Distal weakness, head drop, respiratory insufficiency and dysphagia can also occur in association with proximal muscles weakness.[em-consulte.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    atrophy Kyphosis Episodic fever Peroneal muscle atrophy Back pain Sprengel anomaly Heart block Vocal cord paralysis Distal lower limb amyotrophy Limb-girdle muscular dystrophy[mendelian.co] 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] Type 2 muscle fiber atrophy Weakness of the intrinsic hand muscles Muscle fiber tubular inclusions Visual impairment Distal muscle weakness Ranula Tetraplegia Delayed speech[mendelian.co]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.[ncbi.nlm.nih.gov] muscle weakness and atrophy (in lower limbs especially).[orpha.net] […] alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Neuropathy

    Over time, the numbness may extend proximally, and mild distal muscle weakness and atrophy may occur.[aafp.org] limbs in a “stocking and glove” distribution.[aafp.org] In the early stages of peripheral neuropathy, patients typically present with progressive symptoms, including sensory loss, numbness, and pain or burning sensations in distal[aafp.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal