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456 Possible Causes for Absent Deep Tendon Reflex, Cerebellar Ataxia

  • Vitamin E Deficiency

    deep tendon reflexes, bilateral Babinski's sign, reduced proprioception at four limbs, pes cavus and fasciculations of the tongue.[] Subjects affected by cerebellar ataxia due to congenital isolated vitamin E deficiency (AVED) show vitamin E deficiency caused by a selective impaired gastrointestinal absorption[] Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q[]

  • Friedreich Ataxia

    She had ataxia of gait, mild to severe limb ataxia, and reduced or absent deep tendon reflexes, but no evidence of spasticity on examination.[] ataxia with retained reflexes.[] On physical exam, the pediatrician notices nystagmus, absent deep tendon reflexes, significant loss of vibratory and proprioceptive sensation in his extremities, pes cavus[]

  • Abetalipoproteinemia

    However, deep-tendon reflexes remained absent and plantar reflexes were still upgoing.[] Clinical findings Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhoea, chronic diarrhoea, anaemia, failure to thrive.[] Neurologic examination may reveal diminished or absent deep tendon reflexes and, less frequently, deficits in proprioception and ataxia.[]

  • Ataxia Telangiectasia

    The exam may show signs of the following: Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual[] Only a mild cerebellar ataxia was present at the age of 7 years then she developed a Wilms tumor (nephroblastoma).[] CNS abnormalities include cerebellar ataxia, dysarthria, choreoathetosis, decreased or absent deep tendon reflexes, various oculomotor disturbances, and a mixed sensorimotor[]

  • Hereditary Areflexic Dystasia

    deep tendon reflexes; pes cavus; weakness in dorsiflexion of the feet and toes; limb dyssynergia; difficulty with equilibrium; intention tremor; and mild sensory abnormalities[] Cerebellar ataxia, early-onset Cerebellar ataxia, late-onset Drug-induced cerebellar ataxia Early onset cerebellar ataxia Early onset cerebellar ataxia with essential tremor[] deep tendon reflexes, and hollow feet.[]

  • Neurodegenerative Disorder

    deep tendon reflexes, Inability to walk Ataxia/ Involuntary movements /infections / cancer Dysarthria MERRF MLD AT 33.[] Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia.[] Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria.[]

  • Lambert Eaton Myasthenic Syndrome

    Debilitating muscle weakness, which is the main clinical manifestation of patients suffering from LEMS, is accompanied by reduced or absent deep tendon reflexes, and by various[] Several reports have presented patients with subacute cerebellar ataxia (CA) and Lambert-Eaton myasthenic syndrome (LEMS).[] LEMS is characterized by depressed or absent deep tendon reflexes which helps to distinguish it from the myopathies and myositis diseases in which deep tendon reflexes are[]

  • Adult Spinal Muscular Atrophy

    deep tendon reflexes Respiratory failure Variable cranial nerve involvement: opthalmoplegia, facial diplegia Additional Specific SMA1Clinical Features [ edit ] Lack of motor[] G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary[] Deep tendon reflexes are absent. Dysphagia may be present. Most children are confined to a wheelchair by age 2 to 3 yr.[]

  • Spinal Muscular Atrophy Type 1

    Deep tendon reflexes are absent. Respiratory failure is common. Mild contractures (of the knees and, more rarely, of the elbows), and scoliosis may be present.[] G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary[] As the disease progresses, autonomic dysfunction and tongue twitching develop, and deep tendon reflexes are absent.[]

  • Inherited Neuropathy

    Absent deep tendon reflexes and pes cavus foot deformity are seen in some patients but not in others.[] ataxia (ADCA) in British population; (2) WES studies to identify mutations in patients with inherited neuropathies or autosomal recessive cerebellar ataxia (ARCA), including[] Deep tendon reflexes were absent. Plantar responses were flexor. All sensory modalities were impaired.[]

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