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586 Possible Causes for Phagocytic Vacuoles with Degraded Membranous Material, Progressive Distal Muscle Weakness

  • Myofibrillar Myopathy Type 3
  • Myofibrillar Myopathy Type 4

    Characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern[genecards.org] Mutations in this gene cause in adulthood progressive muscle weakness of the proximal muscles and muscles of the distal limbs and weakness of the muscles associated with respiratory[ivami.com] weakness that can involve both proximal and distal muscles.[invitae.com]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    distal muscle weakness and atrophy.[ab-y-ss.com] weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.[antibodyplus.com] […] the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive[genscript.com]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Hereditary Proximal Myopathy with Early Respiratory Failure

    distal muscle weakness and early respiratory failure.[nature.com] GNE-related myopathy (IBM2) typically presents in the late teens to early adulthood with slowly progressive distal muscle weakness involving gait disturbance and foot drop[invitae.com] progressed to prominent distal weakness and respiratory insufficiency (FVC of 29%).[neurology.org]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves.[genecards.org] […] spinal muscular atrophy with calf predominance Juvenile or adult onset, slowly progressive, affects both proximal and distal muscles, initially manifests with calf weakness[en.wikipedia.org] Get Update Overview HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle[diseaseinfosearch.org]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Jankovic Rivera Syndrome

    Symptoms - Jankovic Rivera syndrome * Progressive distal muscle weakness * Progressive distal muscle wasting * Myoclonic jerks * Dementia * Abnormal walk * Speech defect Causes[checkorphan.org] distal muscle weakness and wasting.[doi.org] Overview A rare inherited syndrome characterized by involuntary muscle jerking and progressive muscle wasting in the hands and feet.[checkorphan.org]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Amyotrophic Lateral Sclerosis Type 5

    distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.[semanticscholar.org] AB - Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot[moh-it.pure.elsevier.com] Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities[ncbi.nlm.nih.gov]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    , symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially).[orpha.net] […] a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive[orpha.net]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Charcot-Marie-Tooth Disease Type 2S

    distal muscle weakness and atrophy.[uniprot.org] ), the latter of which is characterised by signs of axonal regeneration in absence of obvious myelin changes, normal or slightly reduced nerve conduction velocities, and progressive[medical-dictionary.thefreedictionary.com] Symptoms typically include progressive distal muscle weakness and atrophy, often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched[flybase.org]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material
  • Alpha-B Crystallinopathy

    weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts.[checkorphan.org] Get Update Overview Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness[diseaseinfosearch.org] Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles.[ncbi.nlm.nih.gov]

    Missing: Phagocytic Vacuoles with Degraded Membranous Material

Further symptoms