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729 Possible Causes for Hyporeflexia

  • X-Linked Intellectual Disability due to GRIA3 Anomalies

    Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia.[] Phenotypic features common in the males with GRIA3 mutations included moderate intellectual disability, poor muscle bulk, muscle weakness, asthenic body habitus, and hyporeflexia[] […] moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia[]

  • Atypical Krabbe Disease due to Saposin A Deficiency

    Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination[] […] inheritance 0000007 Central apnea 0002871 Cerebral dysmyelination 0007266 Death in childhood 0003819 Global brain atrophy Generalized brain degeneration 0002283 Hypertonia 0001276 Hyporeflexia[]

  • Spinocerebellar Ataxia, Type 2

    Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia[] Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia.[] College of Medicine, Seoul, Korea Abstract The spinocerebellar ataxia type 2 (SCA 2) is an autosomal dominant cerebellar ataxia that commonly presents with cerebellar ataxia, hyporeflexia[]

  • Autosomal Dominant Sensory Ataxia

    Hyporeflexia MedGen UID: 195967 • Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction.[] , dementia SCA22 (one Chinese family) 1q21-q23 Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy[] Hyporeflexia was also more common among SCA2 patients (73%) than SCA1 (43%), although this difference was not statistically significant.[]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[] […] motor neurons, their motor axons, and secondarily the muscle fibers they innervated (the motor unit) Infantile Spinal Muscular Atrophy -autosomal recessive -hypotonicity, hyporeflexia[] The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[]

  • Guillain-Barré Syndrome

    Guillain-Barré syndrome (GBS) is characterized by rapidly evolving ascending weakness, mild sensory loss, and hyporeflexia or areflexia.[] Physical examination confirmed lower left facial palsy and paresthesia of his extremities with hyporeflexia of his lower limbs and sensory loss of all four extremities.[] Abstract Guillain-Barré syndrome (GBS), an immune-mediated demyelinating peripheral neuropathy, is characterized by acute weakness of the extremities and areflexia or hyporeflexia[]

  • Spinocerebellar Ataxia Type 19

    Affected individuals displayed a lateonset slowly progressive mild cerebellar ataxia, hyporeflexia, and signs of frontal lobe dysfunction.[] Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3].[]

  • Lambert Eaton Myasthenic Syndrome

    It is characterized by muscle weakness, hyporeflexia, and autonomic dysfunction. It is most often associated with small cell carcinomas of the lung.[] Neurological examination revealed ptosis, dysarthria, neck weakness, hyporeflexia of all limbs, and autonomic failure.[] More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement.[]

  • Polymicrogyria with Optic Nerve Hypoplasia

    […] of head or neck Microcephaly Abnormality of the musculature Neonatal hypotonia Abnormality of the nervous system Cognitive delay Colpocephaly Hypoplasia of the brainstem Hyporeflexia[] […] developmental, eye, genetic, neurological Phenotypes Autosomal recessive inheritance ; Colpocephaly ; Congenital onset ; Global developmental delay ; Hypoplasia of the brainstem ; Hyporeflexia[]

  • Autosomal Dominant Benign Spinal Muscular Atrophy

    They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe[] The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[] Patients typically present during infancy or early childhood with progressive weakness, hypotonia , muscle atrophy , hyporeflexia/areflexia, and varying degrees of bulbar[]

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