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.[malacards.org]
Phenotypic features common in the males with GRIA3 mutations included moderate intellectual disability, poor muscle bulk, muscle weakness, asthenic body habitus, and hyporeflexia[egl-eurofins.com]
[…] moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia[malacards.org]
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[uniprot.org]
[…] inheritance 0000007 Central apnea 0002871 Cerebral dysmyelination 0007266 Death in childhood 0003819 Global brain atrophy Generalized brain degeneration 0002283 Hypertonia 0001276 Hyporeflexia[rarediseases.info.nih.gov]
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[ncbi.nlm.nih.gov]
Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia.[cjcnn.org]
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[jkna.org]
Autosomal Dominant Sensory Ataxia
Hyporeflexia MedGen UID: 195967 • Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction.[ncbi.nlm.nih.gov]
, 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[bcm.edu]
Hyporeflexia was also more common among SCA2 patients (73%) than SCA1 (43%), although this difference was not statistically significant.[jnnp.bmj.com]
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.[em-consulte.com]
[…] motor neurons, their motor axons, and secondarily the muscle fibers they innervated (the motor unit) Infantile Spinal Muscular Atrophy -autosomal recessive -hypotonicity, hyporeflexia[brainscape.com]
The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[explainmedicine.com]
Guillain-Barré Syndrome
Guillain-Barré syndrome (GBS) is characterized by rapidly evolving ascending weakness, mild sensory loss, and hyporeflexia or areflexia.[ncbi.nlm.nih.gov]
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.[ncbi.nlm.nih.gov]
Abstract Guillain-Barré syndrome (GBS), an immune-mediated demyelinating peripheral neuropathy, is characterized by acute weakness of the extremities and areflexia or hyporeflexia[ncbi.nlm.nih.gov]
Spinocerebellar Ataxia Type 19
Affected individuals displayed a lateonset slowly progressive mild cerebellar ataxia, hyporeflexia, and signs of frontal lobe dysfunction.[ncbi.nlm.nih.gov]
Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3].[neurowiki2013.wikidot.com]
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.[ncbi.nlm.nih.gov]
Neurological examination revealed ptosis, dysarthria, neck weakness, hyporeflexia of all limbs, and autonomic failure.[ncbi.nlm.nih.gov]
More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement.[ncbi.nlm.nih.gov]
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[familydiagnosis.com]
[…] developmental, eye, genetic, neurological Phenotypes Autosomal recessive inheritance ; Colpocephaly ; Congenital onset ; Global developmental delay ; Hypoplasia of the brainstem ; Hyporeflexia[mousephenotype.org]
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[merckmanuals.com]
The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will[explainmedicine.com]
Patients typically present during infancy or early childhood with progressive weakness, hypotonia , muscle atrophy , hyporeflexia/areflexia, and varying degrees of bulbar[amboss.com]