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760 Possible Causes for Hyperreflexia, Muscle 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]

  • 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] Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh[en.wikipedia.org]

  • 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]

  • 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] […] mass tone (hypotonia), and also episodes in which there is short-lived cessation of spontaneous berathing (apnea).[valleyfamilymedicineurgentcarecenter.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]

  • 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] Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into abnormal[ghr.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen.[symptoma.com] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] […] 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]

  • 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] Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident[ghr.nlm.nih.gov] PCH type 1 has the hallmark of severe muscle weakness. The associated hypotonia may start prenatally or after birth.[rarediseases.org]

  • Maple Syrup Urine Disease

    Cerebral edema: If neurological signs develop or worsen (vomiting, lethargy, hyperreflexia, clonus), suspect cerebral edema.[newenglandconsortium.org] […] rigidity) and hypotonia (muscle limpness) high-pitched cry Signs of intermediate and thiamine-response MSUD include: seizures neurological deficiencies developmental delays[healthline.com] Signs and symptoms of Maple Syrup Urine Disease are: Poor feeding, lack of energy (lethargy) Vomiting Poor muscle tone (hypotonia) Developmental delay Backward arching of[dovemed.com]

  • Myelopathy

    Clinical hyperreflexia was tested at the MCP joint, using a six-axis load cell.[ncbi.nlm.nih.gov] […] depending on the level of the lesion and include local pain , stiffness, and impaired sensation, hypotonia , and hyporeflexia at the level of the lesion, and spasticity and hyperreflexia[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]

  • Cerebellotrigeminal Dermal Dysplasia

    […] strength( Hypotonia ). [8] Eleven of fifteen people in one study showed moderate-to-severe intellectual disability . [6] In cases where it has been noted, head nodding is[en.wikipedia.org] 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] Characteristics: - In PT since 4 months old - Severely delayed milestones (rolled at 10 months, crawled at 14 months, stood at 18 months, walked at 20 months) - Ataxia - Hypotonia[rhombencephalosynapsis.blogspot.com]

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