Create issue ticket

19 Possible Causes for Lower Motor Neuron Signs - Later, Optic Disc Pallor, Spastic Dystonia

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    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] Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Later in the disease course, lower motor neuron signs emerge, with loss of deep tendon reflexes from distal to proximal, variably accompanied by muscle atrophy.[ncbi.nlm.nih.gov]

  • Neurodegeneration with Brain Iron Accumulation

    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] Examination of her nervous system showed pallor of both optic discs. She had orofacial dystonia and apraxia for swallowing.[e-ijd.org] Mutation in the fatty acid 2-Hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am I Hum Genet 2008;83:647-648.[journals.sbmu.ac.ir]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    ALS is a progressive neurodegenerative disease involving both the upper motor neuron (UMN) and lower motor neuron (LMN).[cmm.ucsd.edu] Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized[mendelian.co] Treatment with continuous pump-administered intrathecal baclofen can be considered for spasticity if, despite the use of non-invasive treatments, spasticity or dystonia are[patient.info]

  • Optic Atrophy-Intellectual Disability Syndrome

    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] (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com] dystonia Education and therapy: individualized education plan (IEP), Physical/Occupational/Speech therapy and others as indicated Sleep hygiene, ruling out sleep problems[childneurologyfoundation.org]

  • Adult Polyglucosan Body Disease

    Clinical phenomena usually consist of a mixture of lower and upper motor neuron signs, dementia, and urinary dysfunction.[jnnp.bmj.com] […] of optic disc, slowly progressive spastic paraparesis, asymmentric polineuropathy and periventricular leucoencephalopathy. 18 Adult Krabbe s disease De Stefano et al.[docplayer.it] […] motor neuron: Extensor plantar responses Cognitive: Probably normal Muscle weakness Proximal Face Slowly progressive Tendon reflexes Early: Reduced Late: Increased with Spasticity[neuromuscular.wustl.edu]

  • Lethal Ataxia with Deafness and Optic Atrophy

    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] Examination of these patients shows loss of visual acuity, temporal pallor of the optic discs, centrocecal scotomas with peripheral sparing, and subtle impairments in color[en.wikipedia.org] (late) • Others… – optic atrophy, pigment degeneration, nystagmus – ataxia (if able to stand) – dystonia , multifocal myoclonus – seizures Pathological Features • bilateral[emilytam.com]

  • Deafness - Opticoacoustic Nerve Atrophy - Dementia Syndrome

    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] disc pallor Spastic gait Sensorimotor neuropathy Tinnitus Anosmia Steppage gait Nausea Nausea and vomiting Dysmetria Drowsiness Abnormality of eye movement Postural instability[mendelian.co] Dystonia Diabetes mellitus Cerebellar hypoplasia Progressive cerebellar ataxia Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Decreased body weight[mendelian.co]

  • Autosomal Dominant Classic Optic Atrophy

    Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com] Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] , X-linked Parkinsonism-dystonia, infantile, autosomal recessive Peroxisome biogenesis disorder 10A Peroxisome biogenesis disorder 11A Peroxisome biogenesis disorder 12A Peroxisome[agdx.portal.cartagenia.com]

  • Spastic Paraplegia - Ataxia - Mental Retardation

    Amyotrophic lateral sclerosis •Upper motor neuron loss: -Corticospinal tracts.[quizlet.com] disc pallor Brain atrophy Abnormality of eye movement Clumsiness Intellectual disability, severe Progressive encephalopathy Muscular dystrophy Cerebral dysmyelination Perisylvian[mendelian.co] Abstract We reported three siblings with complicated hereditary spastic paraplegia.[ncbi.nlm.nih.gov]

  • Early-Onset X-Linked Isolated Optic Atrophy

    Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com] The families described by Hanein et al. [ 4 ] were characterized by early-onset severe visual impairment, optic disc pallor, and central scotomata.[molvis.org] For example, 1-the syndrome of LHON plus spastic dystonia and basal ganglionic lesions has been reported in at least two 11778 families and in one 3460 family. 2-the syndrome[slideplayer.com]

Similar symptoms