Create issue ticket

36 Possible Causes for Generalized Dystonia, Lower Motor Neuron Signs - Later, Spasticity of Lower and Upper Limbs

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Conclusions MPAN is characterized by a juvenile‐onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.[ingentaconnect.com] SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. {ECO:0000269 PubMed:23857908}.[genecards.org] 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]

  • Juvenile Primary Lateral Sclerosis

    CONCLUSIONS: We report generalized dystonia and cerebellar signs in association with ALS2-related disease.[foundationdystoniaresearch.org] […] and sustained clonus of the lower limbs within the first two years of life Progressive weakness and spasticity of the upper limbs by age seven to eight years Wheelchair dependence[cmm.ucsd.edu] 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 Type 5

    ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[discovery.ucl.ac.uk] Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy.[mendelian.co] 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]

  • Neurodegeneration with Brain Iron Accumulation

    […] as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias.[ncbi.nlm.nih.gov] The lower limbs are usually affected earlier and more significantly than the upper limbs.[ncbi.nlm.nih.gov] Here, we report three C19orf12-mutant patients from two families presenting with predominant upper and lower motor neuron dysfunction mimicking amyotrophic lateral sclerosis[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Gleeson, CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.[hih-tuebingen.de] […] paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired[malacards.org] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

  • X-linked Parkinsonism-Spasticity Syndrome

    , 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] limb spasticity, or stiffness and weakness, which are caused by gene mutation and therefore they are inherited.[hstalks.com] 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]

  • Autosomal Recessive Spastic Paraplegia Type 53

    Gleeson, CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.[hih-tuebingen.de] SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.[malacards.org] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] ) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood,[amp.pharm.mssm.edu] Lower motor neuron loss causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement[neuropathology-web.org]

  • Autosomal Recessive Spastic Paraplegia Type 49

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years.[omicsonline.org] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

  • Autosomal Recessive Spastic Paraplegia Type 26

    [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] […] paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness.[malacards.org] She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years.[omicsonline.org]

Similar symptoms