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85 Possible Causes for Generalized Dystonia, Lower Motor Neuron Signs - Later, Muscular Atrophy

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    (Amaurosis) Axonal neuropathy (Severe muscular atrophy)Psychiatric signs TCS echogenicity in cm2 SN (r) 0.2 0.2 0.19SN (l) 0.2 0.2 0.19GP (r) 0.9 1.22GP (l) 0.7 0.86Third[docslide.net] Conclusions MPAN is characterized by a juvenile‐onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.[ingentaconnect.com] Early upper motor neuron signs (pyramidal signs, e.g. spasticity) are constant findings and are later followed by signs of lower motor neuron dysfunction (deep tendon reflex[malacards.org]

  • Amyotrophic Lateral Sclerosis Type 5

    […] are affected before the distal parts. [6] Thus the pattern of muscular atrophy in our patient differed from that of typical ALS or progressive spinal muscular atrophy in that[neurologyindia.com] ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[discovery.ucl.ac.uk] AB - Juvenile amyotrophic lateral sclerosis (ALS) is a form of chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with[jhu.pure.elsevier.com]

  • Juvenile Primary Lateral Sclerosis

    Spinal Muscular Atrophies SMA type I – Acute infantile or Werdnig-Hoffman disease The condition is usually evident by the time the infant reaches 6 months of age Diffuse muscle[thehumanthebody.com] CONCLUSIONS: We report generalized dystonia and cerebellar signs in association with ALS2-related disease.[foundationdystoniaresearch.org] El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis 7 : it requires the presence of signs of lower motor neuron (LMN) degeneration by clinical, electrophysiological[radiopaedia.org]

  • Amyotrophic Lateral Sclerosis

    The patients were a 54-year-old man with progressive muscular atrophy who underwent removal of internal fixators in the arm and leg, and a 66-year-old woman with amyotrophic[ncbi.nlm.nih.gov] It can be localized to a certain group of muscles or can be generalized (180).[functionalneurology.com] It is one of many motor neuron diseases, but what makes it stand out is that it presents with both upper and lower motor neuron signs.[symptoma.com]

  • Autosomal Recessive Spastic Paraplegia Type 49

    atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21[icd10data.com] ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Treatment for spinal muscular atrophy Unfortunately, there is currently no specific treatment for SMA.[betterhealth.vic.gov.au] […] limb-onset dystonia Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Hypohidrotic ectodermal dysplasia with[csbg.cnb.csic.es] Most patients have clinical signs of both upper and lower motor neuron disease and are diagnosed with amyotrophic lateral sclerosis - ALS.[dartmouth.edu]

  • X-linked Parkinsonism-Spasticity Syndrome

    Atrophy Type 1 Spinal Muscular Atrophy Type 2 Spinocerebellar Degeneration Stiff-Mans Syndrome Striato-Nigral Degeneration Vascular Myelopathy Wallerian Degeneration of White[bladderbowel.gov.au] , segmental region in upper limbs; mild course DYT-14 14q13 Dopa Responsive generalized dystonia Autosomal Dominant Early onset, leading to gait and postural abnormalities[cmdg.org] Lateral sclerosis is the loss of axons in the lateral columns of the spinal cord (the upper motor neurons of the corticospinal tracts).[britannica.com]

  • Distal Hereditary Motor Neuropathy Type 1

    muscular atrophy, but have different genetic causes.[togetherinsma.com] […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] neuron disorders presenting with variable combination of upper and lower motor neuron signs.[journals.plos.org]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Homepage Rare diseases Search Search for a rare disease X-linked distal spinal muscular atrophy type 3 Disease definition X-linked distal spinal muscular atrophy type 3 is[orpha.net] [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com] Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with[ghr.nlm.nih.gov]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    muscular atrophy, but have different genetic causes.[togetherinsma.com] Generalized dystonia (e.g., dystonia musculorum deformans) is an inherited condition in which persistent and often painful twisting and writhing movements of any muscle group[britannica.com] Unlike amyotrophic lateral sclerosis, lower motor neuron findings, such as atrophy and fasciculations, are not as prominent.[verywell.com]

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