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1,138 Possible Causes for Hyperreflexia, Hypotonia

  • Angelman Syndrome

    Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia[rarediseases.org] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[ncbi.nlm.nih.gov] hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.[whonamedit.com]

  • Infantile Neuroaxonal Dystrophy

    On physical examination there was optic atrophy, hypertonia and hyperreflexia.[ingentaconnect.com] A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have[ncbi.nlm.nih.gov] […] weakness 0003324 Gliosis 0002171 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hyperactivity More active than typical 0000752 Hyperreflexia[rarediseases.info.nih.gov]

  • Myelopathy

    Clinical hyperreflexia was tested at the MCP joint, using a six-axis load cell.[ncbi.nlm.nih.gov] Clinical features vary depending on the level of the lesion and include local pain , stiffness, and impaired sensation, hypotonia , and hyporeflexia at the level of the lesion[amboss.com] Physical examination commonly elicits long tract signs such as spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign.[neurosurgery.ucla.edu]

  • Leigh's Disease

    A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[ncbi.nlm.nih.gov] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] […] blood of a person with Leigh syndrome. [5] As the disease progresses, the muscular system is debilitated throughout the body, as the brain cannot control the contraction of muscles[en.wikipedia.org]

  • Mucolipidosis Type 4

    […] abdominal wall muscles [ more ] 0010318 Corneal opacity 0007957 Developmental stagnation 0007281 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia[rarediseases.info.nih.gov] Infants with I-cell disease are typically underweight at birth, with muscle hypotonia and coarse facial features, the full clinical picture of the disorder presenting between[saudija.org] Hypotonia (low muscle tone), but tendon reflexes are usually spastic.[ldnz.org.nz]

  • De Barsy Moens Diercks Syndrome

    […] examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia[jamanetwork.com] […] sac Cutis laxa; condition characterized by loose and inelastic skin Delayed skeletal maturation, or delayed bone age Failure to thrive Frontal bossing; prominent forehead Hyperreflexia[dovemed.com] It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia.[nepjol.info]

  • Rubinstein-Taybi Syndrome

    Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen.[symptoma.com] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org]

  • Pontocerebellar Hypoplasia Type 1B

    […] abnormality Muscular hypotonia of the trunk Poor head control Absent speech Cognitive delay Seizures Respiratory system abnormality Skeletal system abnormality Growth symptoms Hyperreflexia[familydiagnosis.com] Neonates with PCH1 present with hypotonia, impaired swallowing with consequently feeding difficulties and progressive microcephaly which mostly develops postnatally.[orpha.net] […] symptoms Flexion contracture Head abnormality Tongue atrophy Tongue fasciculations Limb abnormality Abdominal abnormality Feeding difficulties Muscle abnormality Muscular hypotonia[familydiagnosis.com]

  • Maple Syrup Urine Disease

    Cerebral edema: If neurological signs develop or worsen (vomiting, lethargy, hyperreflexia, clonus), suspect cerebral edema.[newenglandconsortium.org] After starting dietary treatment, there was no significant improvement in his hypotonia or his psychomotor development.[ncbi.nlm.nih.gov] […] present in early infancy with brain edema; delay in diagnosis and treatment is common and associated with residual neurologic damage, which includes alternating muscular hypotonia[ncbi.nlm.nih.gov]

  • Cerebellotrigeminal Dermal Dysplasia

    Diseases related with Hyperreflexia and Smooth philtrum In the following list you will find some of the most common rare diseases related to Hyperreflexia and Smooth philtrum[mendelian.co] Diseases related with Generalized hypotonia and Alopecia In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Alopecia[mendelian.co] The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit[ncbi.nlm.nih.gov]

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