Diurnal Fluctuation of Symptoms & Hypotension & Spasticity - Hyperreflexia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Diurnal Fluctuation of Symptoms, Hypotension, Spasticity - Hyperreflexia,

Negated

None

Unsure

None

Possible Causes

Aromatic L-Amino Acid Decarboxylase Deficiency

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

Diurnal fluctuation or improvement of symptoms after sleep were noted in half of the patients. Treatment response was variable. [ncbi.nlm.nih.gov]

[…] 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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Pallidopyramidal Syndrome

Symptoms * Pyramidal signs * Parkinson disease * Tremor * Rigidity * Hyperreflexia * Spastic muscle tone * Gait disturbance * Bradykinesia * Dysarthria * Dysphagia Diagnosis [checkorphan.org]

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. [ncbi.nlm.nih.gov]

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 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]

fluctuation of symptoms, and a dramatic response to levodopa therapy. [11] Parkinsonian features may appear later in the course of the disease and in adult family members [movementdisorders.org]

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

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Torticollis

Upper motor neuron signs in the lower limbs (Babinski's sign: upgoing plantar reflex, hyperreflexia, clonus, spasticity). [patient.info]

This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms [ncbi.nlm.nih.gov]

Baseline normotension or mild hypotension: dobutamine or isoproterenol infusion. [emcrit.org]

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Disorder of Catecholamine Synthesis

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

In some cases, the symptoms may become worse or more pronounced in the afternoon and evening than in the morning (diurnal fluctuation). [rarediseases.org]

Symptoms from orthostatic hypotension become worse in late adolescence and in early adulthood. [medicinenet.com]

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Parkinsonism

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

A diagnostic workup for MG was not performed due to a lack of clinical features suggestive of MG, such as fatigability or diurnal fluctuation. [e-jmd.org]

Orthostatic hypotension, GI disturbances (constipation, gastroparesis, l-dopa uptake), Urinary Incontinence, erectile dysfunction What causes urinary incontinence and what [quizlet.com]

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Atypical Juvenile Parkinsonism

Involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor toe signs, was common (13 of 52 patients [25 percent]), as was cognitive decline (15 of [nejm.org]

hallucinations/ delusions Mild extrapyramidal dysfunction Fluctuations in attention or level of arousal Orthostatic hypotension, syncope Depression Diurnal variations in [slideplayer.com]

hypotension in Parkinson s disease, but its use is limited by adverse effects. [docplayer.net]

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Infantile Dystonia - Parkinsonism

[…] weakness and hyperreflexia of the lower limbs. [ashg.org]

Hanihara, T. et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov. [nature.com]

A single mutation in NET (A457P) causes postural hypotension/orthostatic intolerance, which is genetically transmitted in a dominant fashion 7. [jneurology.com]

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Alopecia - Hypogonadism - Extrapyramidal Syndrome

Children with PKAN typically manifest gait abnormalities around age three years and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia, and [bloodgenetics.com]

fluctuation; hereditary progressive dystonia with marked diurnal fluctuation Related symptoms: Hearing impairment Scoliosis Ataxia Hypertension Talipes equinovarus SOURCES [mendelian.co]

[…] morphology Aspiration pneumonia Low-set ears Generalized hyperpigmentation Edema Epistaxis Abnormality of the pinna Atrial septal defect Generalized hypotonia Hypersomnia Hypotension [mendelian.co]

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Autosomal Dominant Mental Retardation Type 5

Spasticity in affected limbs Extensor plantar responses The striatal toe Myoclonic jerks Oculogyric crises Bilateral ptosis Mental retardation (intellectual disability) Autonomic [findzebra.com]

hypotension profoundly limits their activities. [massgeneral.org]

Patients with this condition may also have autonomic dysfunction such as pupillary abnormalities, abnormal reaction to intradermal histamine, abnormal sweating and orthostatic hypotension [reviewofophthalmology.com]

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