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]
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]
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.com]
Parkinsonism w orthostatic hypotension Parkinsonism with orthostatic hypotension Parkinsons variant Pigmentary pallidal degeneration Progressive supranuclear ophthalmoplegia[icd9data.com]
X-linked Parkinsonism-Spasticity Syndrome
[…] 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]
Orthostatic hypotension 2.[slideshare.net]
Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness,[centogene.com]
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]
[…] hour sleep–wake disorder Jet lag CSF Intracranial hypertension Hydrocephalus / NPH Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension[maria-online.com]
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.[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]
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]
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]
[…] hour sleep–wake disorder Jet lag CSF Intracranial hypertension Hydrocephalus / NPH Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension[maria-online.com]
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]
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]