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68 Possible Causes for Muscle Rigidity, Optic Disc Pallor, Spastic Dystonia

  • Globoid Cell Leukodystrophy

    muscles.[nlm.nih.gov] Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular[ncbi.nlm.nih.gov] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, involuntary trembling (tremors), and an inability to hold the body upright and balanced[ghr.nlm.nih.gov] Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other[malacards.org]

  • Beta-Propeller Protein-Associated Neurodegeneration

    This type of seizure affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.[elbiruniblogspotcom.blogspot.no] Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Therapies to manage dystonia can include: Intramuscular botulinum toxin Botox is injected in spastic, dystonic muscles to help them relax for a period of time Oral Artane[nbiacure.org]

  • Wilson Disease

    Medically, parkinsonism refers to any condition that causes symptoms similar to Parkinson's disease tremors at rest, muscle rigidity, slow movement, and changes in walking[webmd.com] Less common findings include night blindness, exotropic strabismus, optic neuritis and optic disc pallor.[patient.info] Late manifestations (now rare because of earlier diagnosis and treatment) include dystonia, spasticity, grand mal seizures, rigidity, and flexion contractures.[emedicine.medscape.com]

  • Familial Infantile Bilateral Striatal Necrosis

    Symptoms of IBSN include involuntary muscle movements, muscle spasms, being rigid, random movements, difficulty swallowing, vision problems, intellectual disability, very[diseaseinfosearch.org] disc pallor Athetosis 3-Methylglutaconic aciduria Abnormality of mitochondrial metabolism Epileptic encephalopathy Hypsarrhythmia Aciduria Encephalopathy Abnormality of the[mendelian.co] Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills[orpha.net]

  • Inherited Congenital Spastic Tetraplegia

    The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's[disabled-world.com] Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized[mendelian.co] Parkinsonism due to hereditary spastic paraplegia Paroxysmal choreoathetosis Paroxysmal dystonia Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Pure[icdlist.com]

  • Spastic Ataxia with Congenital Miosis

    Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.[findzebra.com] disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated[mendelian.co] , Angelman syndrome , Ataxia spastic congenital miosis , Ataxia , Athetosis , Autonomic dysreflexia , Autonomic dystonia , Autosomal recessive spastic paraplegia , Bahemuka[wikidoc.org]

  • Neuronal Ceroid Lipofuscinosis

    muscles (due to severe problems with the nerves that control muscle tone) The person may become totally dependent on others for help with daily activities.[medlineplus.gov] Early changes include defective macular light reflex and optic disc pallor followed by attenuation of vessels, pigmentary retinal changes, degeneration of macula and optic[ncbi.nlm.nih.gov] Benzodiazepines may help control seizures, anxiety, and spasticity. Trihexyphenydate may improve dystonia and sialorrhea.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    […] weakness Spinal rigidity Poor speech Unsteady gait Increased connective tissue Feeding difficulties Facial hypotonia Achilles tendon contracture Respiratory failure Reduced[mendelian.co] Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] […] paraplegia type 1 [ ] Autosomal dominant familial spastic paraplegia type 2 [ ] Autosomal dominant familial spastic paraplegia type 3 [ ] Autosomal dominant focal dystonia[wikicure.wikia.com]

  • Degenerative Disorder

    Patients with Parkinson's, depending on the progression of their condition, often exhibit muscle rigidity, difficulties walking and performing other basic tasks, and distinctive[en.wikiversity.org] disc pallor in those with point mutations.[doi.org] Benzodiazepines may help control seizures, anxiety, and spasticity. Trihexyphenydate may improve dystonia and sialorrhea.[ncbi.nlm.nih.gov]

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