Hypotension & Onset in Early Infancy & Spasticity - Hyperreflexia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Hypotension, Onset in Early Infancy, Spasticity - Hyperreflexia,

Negated

None

Unsure

None

Possible Causes

Aromatic L-Amino Acid Decarboxylase Deficiency

[…] clinical features suggesting spasticity. [jn.nutrition.org]

The onset is early in infancy and inheritance is autosomal recessive. [uniprot.org]

[…] aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension [ncbi.nlm.nih.gov]

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Autosomal Dominant Spastic Paraplegia Type 10

is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar [orpha.net]

Uncomplicated HSP This is usually the autosomal dominant form and may start at any age, mostly in the second to fourth decades but can also occur in infancy, early childhood [encyclopedia.com]

[…] hour sleep–wake disorder Jet lag CSF Intracranial hypertension Hydrocephalus / NPH Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension [maria-online.com]

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X-linked Parkinsonism-Spasticity Syndrome

Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe [medvik.cz]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

Abnormal autonomic nervous system physiology Hypometric saccades Hypotension Optic atrophy Delayed speech and language development Behavioral abnormality Substantia nigra [mendelian.co]

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Proximal Myopathy with Extrapyramidal Signs

The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower [emedicine.medscape.com]

infancy LS (severe form) Late onset: myopathy, ataxia, seizures, mild encephalopathy Modified from genereviews.org. [neupsykey.com]

Dizziness or significant hypotension after treatment with the injection is a rare occurrence. [mentalhealth.com]

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Hallervorden-Spatz Syndrome

Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria [radiopaedia.org]

However, the disease has been reported in infancy, and cases with adult onset have also been described. [emedicine.medscape.com]

Parkinsonism w orthostatic hypotension Parkinsonism with orthostatic hypotension Parkinsons variant Pigmentary pallidal degeneration Progressive supranuclear ophthalmoplegia [icd9data.com]

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Autosomal Dominant Spastic Paraplegia Type 17

Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia [malacards.org]

Variation in the phenotype in a family may occur in factors such as: age of onset – in the one family with the same mutation, it is not uncommon to have examples of early [hspersunite.org.au]

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Autosomal Dominant Spastic Paraplegia Type 8

24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes [malacards.org]

Variation in the phenotype in a family may occur in factors such as: age of onset – in the one family with the same mutation, it is not uncommon to have examples of early [hspersunite.org.au]

Autonomic features are impotence and postural hypotension (most marked at times of fluid removal by dialysis). [neuroweb.us]

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Autosomal Dominant Spastic Paraplegia Type 31

24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes [malacards.org]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

Autonomic features are impotence and postural hypotension (most marked at times of fluid removal by dialysis). [neuroweb.us]

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Autosomal Dominant Spastic Paraplegia Type 6

[…] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder [orpha.net]

Variation in the phenotype in a family may occur in factors such as: age of onset – in the one family with the same mutation, it is not uncommon to have examples of early [hspersunite.org.au]

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Spastic Ataxia with Congenital Miosis

Clinical features included severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, an... [findzebra.com]

S/S of orthostatic hypotension and treatment in the elderly* Definition The most common symptom of orthostatic hypotension is feeling lightheaded or dizzy when you stand up [flashcardmachine.com]

However, onset during early infancy is distinctly unusual. [healio.com]

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Autosomal Recessive Spastic Paraplegia Type 56

hyperreflexia, lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin [1pdf.net]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

Progressive & Disabling in 2nd & 3rd decade in some patients Cerebellar Spastic-Ataxic gait EOM: Gaze-evoked horizontal nystagmus; Upbeat nystagmus; Ocular dysmetria Orthostatic hypotension [neuromuscular.wustl.edu]

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Autosomal Dominant Spastic Paraplegia Type 37

Seizures Milia Spasticity Hyperreflexia SOURCES: DOID GARD OMIM MESH MONDO ORPHANET UMLS More info about SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 Low match SPASTIC [mendelian.co]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

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Autosomal Dominant Spastic Paraplegia Type 4

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia [ncbi.nlm.nih.gov]

Uncomplicated HSP This is usually the autosomal dominant form and may start at any age, mostly in the second to fourth decades but can also occur in infancy, early childhood [encyclopedia.com]

A POPULATION-BASED APPROACH Proceedings Vai 2007 An unexpected association between intracranial hypotension and split cord malformation Proceedings Vai 2006 Linkage analysis [unipa.it]

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Autosomal Recessive Spastic Paraplegia Type 7

hyperreflexia, lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin [1pdf.net]

A number of people initially develop symptoms that start as early as infancy or early childhood, although symptoms may begin as late as the person's eighties or nineties. [disabled-world.com]

He experienced pollakiuria but neither constipation nor orthostatic hypotension. [nature.com]

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Familial Infantile Myoclonic Epilepsy

Related symptoms: Seizures Ataxia Spasticity Hyperreflexia Dysarthria SOURCES: ORPHANET OMIM MENDELIAN More info about EARLY-ONSET LAFORA BODY DISEASE Top 5 symptoms//phenotypes [mendelian.co]

• GTCSs: All affected subjects had GTCSs that were spontaneous or followed a prolonged myoclonic status, with onset in early infancy in patients III‐2 to III‐6 and between [onlinelibrary.wiley.com]

[…] arrest Treatment necessary when seizure 3-4min  benzodiazepines Working mechanism: Gaba receptor Fast acting: fast penetration in the brain Short half-life (-) Sedative, hypotensive [opleid.info]

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Alexander Disease

/hyperreflexia, positive Babinski sign, gait abnormality, and weakness, though individual-to-individual and intrafamilial variability is seen [ Graff-Radford et al 2014 ]. [ncbi.nlm.nih.gov]

However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms-suggesting the presence of a distinct neonatal form [ncbi.nlm.nih.gov]

We report a case of adult-onset AxD with symptomatic orthostatic hypotension (OH) and heat intolerance that underwent formal autonomic testing. [ncbi.nlm.nih.gov]

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Paraparesis

[…] abnormalities on examination of patients with pure HSP include spasticity, hyperreflexia, and extensor plantar responses, with weakness of a pyramidal distribution in the [jnnp.bmj.com]

An alternative mechanism is hypoperfusion of the spinal cord because of the documented hypotension. [stroke.ahajournals.org]

A number of people initially develop symptoms that start as early as infancy or early childhood, although symptoms may begin as late as the person's eighties or nineties. [disabled-world.com]

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Diffuse Serous Labyrinthitis

On examination, he is found to have normal reflexes and strength in his arms and hyperreflexia in his legs with upgoing toes, and his gait is spastic. [classes.kumc.edu]

Tay-Sachs Early infancy Hypersensitivity to noise Increased startle response Myoclonic seizures Cherry-red spot - macula Death by 2 years of age Niemann-Pick 5 different [ahcmedia.com]

Two new chapters on Hypotension and Photophobia. [books.google.de]

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Pure Hereditary Spastic Paraplegia

[…] and weakness, hyperreflexia, ankle … View Full Text AAN Members: Sign in with your AAN member credentials (e-mail or 6-digit Member ID number) Non-AAN Member subscribers: [neurology.org]

Uncomplicated HSP This is usually the autosomal dominant form and may start at any age, mostly in the second to fourth decades but can also occur in infancy, early childhood [encyclopedia.com]

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Autosomal Dominant Spastic Paraplegia Type 41

[…] by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia [orpha.net]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

He experienced pollakiuria but neither constipation nor orthostatic hypotension. [nature.com]

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Spastic Paraplegia

This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. [ncbi.nlm.nih.gov]

There may be observation of symptoms as early as infancy to as late as when an individual is close to 90 years of age but more often than not symptoms of Hereditary Spastic [epainassist.com]

He experienced pollakiuria but neither constipation nor orthostatic hypotension. [nature.com]

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Autosomal Recessive Spastic Paraplegia Type 64

hyperreflexia, extensor plantar responses, and bladder dysfunction). [ng.neurology.org]

The age of onset can be from infancy to the eighth decade. 9 The marked interfamilial variation in age of onset was one of the early pointers to genetic heterogeneity in this [jnnp.bmj.com]

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Parkinson's Disease Type 3

This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. [en.wikipedia.org]

Discussion These two patients with GD1 had early-onset parkinsonism with partial benefit from dopaminergic therapy. [clinicalmovementdisorders.biomedcentral.com]

[…] or presence of orthostatic hypotension at the screening or baseline visit defined as greater than or equal to 20 mmHg change in systolic BP and greater than or equal to 10 [clinicaltrials.gov]

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Distal Spinal Muscular Atrophy Type 4

weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia.[6],[4]. [explainmedicine.com]

Onset is during infancy or early childhood. Affected individuals display slowly progressive muscle weakness and most retain the ability to walk into late adolescence. [rarediseases.org]

[…] distally in a symmetrical pattern -Initial symptoms include tingling, numbness or pain, especially in feet -"Stocking glove" sensory distribution impairments, orthostatic hypotension [quizlet.com]

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Isolated Congenital Alacrima

Growth hormone excess Hyperreflexia Impaired temperature sensation Cutis gyrata of scalp Clubbing of toes Abnormality of bone marrow cell morphology Eczematoid dermatitis [mendelian.co]

Examination findings include dehydration, hypovolemia and tachycardia, postural hypotension, increased skin pigmentation. [clinicaladvisor.com]

If hypotension occurs during induction or before clamping the bronchus, it is probably due to the association of decreased thoracic venous return caused by increased pressure [sites.uclouvain.be]

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Hereditary Spastic Paraplegia

[…] by progressive spasticity and hyperreflexia of the lower limbs HSMN V familial spastic paraplegia Strümpell-Lorrain disease French settlement disease Strumpell-Lorrain disease [wikidata.org]

The patients showed nystagmus during infancy and had early onset of HSP. [ncbi.nlm.nih.gov]

If present in CP, these features typically occur following a short but profound period of hypotension and hypoxia in the perinatal period. [adc.bmj.com]

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Klinefelter Syndrome

This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. [ncbi.nlm.nih.gov]

The clinical spectrum of testicular failure in KS ranges from near-complete, fetal-onset gonadal failure and androgen deficiency, manifested by small testes and penis early [dx.doi.org]

A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. [ncbi.nlm.nih.gov]

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Distal Myopathy Type 3

Hyperreflexia Babinski's N/A Both upper and lower motor neuron signs Clinical diagnosis Normal Nonspecific findings of chronic denervation with reinnervation Neuropathic [wikidoc.org]

Hereditary distal myopathy with onset in early infancy. J Neurol Sci, 1978; 37: 149–158. [link.springer.com]

Type 1 (also known as Werdnig-Hoffmann disease) has an onset typically in early infancy; the condition may even be apparent at birth. [mda.org.au]

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Generalized Clonic or Tonic-Clonic Seizures

Seizures Milia Spasticity Hyperreflexia SOURCES: DOID GARD OMIM MESH MONDO ORPHANET UMLS More info about SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 Low match EPILEPTIC [mendelian.co]

onset severe myoclonic epilepsy in infancy. 61 Nabbout R...Bahi-Buisson N 19734009 2009 45 A novel inherited mutation in the voltage sensor region of SCN1A is associated [malacards.org]

[…] cardiac investigations Patients presenting with a transient loss of consciousness should have an ECG and lying and standing blood pressure measurements to rule out postural hypotension [ncbi.nlm.nih.gov]

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Pelizaeus-Merzbacher Disease

There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk. [patient.info]

The onset of Pelizaeus–Merzbacher disease is usually in early infancy. [en.wikipedia.org]

Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms. [icd9data.com]

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