Hypertension, and Abnormal pyramidal sign

Diseases related with Hypertension and Abnormal pyramidal sign

In the following list you will find some of the most common rare diseases related to Hypertension and Abnormal pyramidal sign that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Medium match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Other less relevant matches:

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Low match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Top 5 symptoms//phenotypes associated to Hypertension and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Abnormality of extrapyramidal motor function Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Abnormal pyramidal sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Hyperreflexia Seizures Rigidity Pain Hearing impairment Motor delay Brisk reflexes Global developmental delay Intellectual disability Bradykinesia Cognitive impairment Mental deterioration Hepatomegaly Hypothyroidism Gait ataxia Pes cavus Depressivity Fatigue Tremor Muscle weakness Fever Nystagmus Developmental regression Abnormality of the liver Peripheral neuropathy Tetraparesis Progressive encephalopathy Hypertonia Dysarthria Dysphagia Peripheral demyelination Dementia Memory impairment Urinary incontinence Dystonia Myopathy Limb dystonia Dysmetria Delayed speech and language development Headache Sleep disturbance Parkinsonism Torticollis Tetraplegia Focal dystonia

Rare Symptoms - Less than 30% cases

Vomiting Emotional lability Apathy Slurred speech Leukoencephalopathy Vertigo Hemiparesis Spastic paraparesis Gaze-evoked nystagmus Psychosis Subcutaneous hemorrhage Sensorineural hearing impairment Coma Clumsiness Spastic tetraplegia Stroke-like episode Ventriculomegaly Renal insufficiency Visual impairment Corneal opacity Alcoholism Oral-pharyngeal dysphagia Portal hypertension Myocardial infarction Pseudobulbar paralysis Abnormality of the skin Hepatosplenomegaly Abnormal cerebellum morphology Confusion Abnormality of movement Behavioral abnormality Diffuse leukoencephalopathy Neurodegeneration Cranial nerve paralysis Talipes equinovarus Paresis of extensor muscles of the big toe Generalized dystonia Lower limb hyperreflexia Postural tremor Scoliosis Insulin resistance Obsessive-compulsive behavior Abnormality of the substantia nigra Transient hyperphenylalaninemia Progressive flexion contractures Loss of speech Anxiety Impaired vibration sensation in the lower limbs Progressive psychomotor deterioration Neuronal loss in central nervous system Decreased CSF homovanillic acid Cerebral atrophy Myoclonus Horizontal nystagmus Stroke Rheumatoid arthritis Lower limb muscle weakness Inability to walk Abnormality of eye movement Sensory neuropathy Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Brain atrophy Nausea Spastic tetraparesis Migraine Truncal ataxia Recurrent pneumonia Abnormality of the eye Atherosclerosis Shock Abnormal electroretinogram Hemiplegia Personality changes Cerebral hemorrhage Aphasia Scotoma Bulbar palsy Amyloidosis Impaired pain sensation Pallor Ophthalmoplegia Facial palsy Abnormal lower motor neuron morphology Cerebral calcification Progressive neurologic deterioration Choreoathetosis Broad-based gait Muscle stiffness Schizophrenia Dysdiadochokinesis Athetosis Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Bipolar affective disorder Frontotemporal dementia Lewy bodies Calcinosis Hypoglycemia Calcification of the small brain vessels EEG abnormality Cerebral cortical atrophy Elevated serum creatine phosphokinase Visual loss Abnormality of visual evoked potentials Dense calcifications in the cerebellar dentate nucleus Pill-rolling tremor Orofacial dyskinesia Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Mood swings Pseudohypoparathyroidism Optic neuropathy Cerebral ischemia Transient ischemic attack Premature graying of hair White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Intestinal obstruction White forelock Decreased nerve conduction velocity CNS hypomyelination Anosmia Hypopigmented skin patches Abnormal autonomic nervous system physiology Leukodystrophy Hypohidrosis Demyelinating peripheral neuropathy Ileus Underdeveloped nasal alae Meconium ileus Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Peripheral hypomyelination Intestinal pseudo-obstruction Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Aganglionic megacolon Hypopigmentation of the skin Varicose veins Subcortical dementia Generalized hypotonia Subdural hemorrhage Scintillating scotoma Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Retinal arteriolar tortuosity Muscular hypotonia Focal sensory seizure Amaurosis fugax Mania Perseveration Abnormality of nervous system morphology Migraine with aura Gliosis Growth delay Cryptorchidism Distal sensory impairment Abdominal pain Distal amyotrophy Arthrogryposis multiplex congenita Prominent nasal bridge Distal muscle weakness Telecanthus Abnormality of the nervous system Neonatal hypotonia Hypogonadism Wide nasal bridge Constipation Hyporeflexia Areflexia Arrhythmia Splenomegaly Intellectual disability, severe Myopia Chorea Sea-blue histiocytosis Postural instability Arthralgia Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Neoplasm Anemia Diabetes mellitus Joint stiffness Dysphonia Reduced tendon reflexes Multiple lipomas Axonal degeneration Coronary artery atherosclerosis Coarse facial features Abnormality of mitochondrial metabolism Ragged-red muscle fibers Hoarse voice Hepatic steatosis Respiratory tract infection Cirrhosis Muscle cramps Polyneuropathy Tachycardia Paresthesia Spastic diplegia Cerebral palsy Macrocytic anemia Poor motor coordination Spastic ataxia Reduced subcutaneous adipose tissue Urinary urgency Generalized lipodystrophy Back pain Caudate atrophy Spastic gait Arteriosclerosis Diplopia Reduced intraabdominal adipose tissue Alopecia Osteoporosis Sparse hair Unsteady gait Low back pain Hyperinsulinemia Involuntary movements Difficulty walking Status epilepticus Hypertriglyceridemia Paraplegia Spastic paraplegia Irritability Hyperlordosis Generalized hirsutism Diffuse white matter abnormalities Acanthosis nigricans Arteriosclerosis of small cerebral arteries Diffuse demyelination of the cerebral white matter Lipodystrophy Pseudobulbar signs Knee pain Arthropathy Lipoma Dyskinesia Blindness Generalized myoclonic seizures Generalized muscle weakness Platyspondyly Prominent forehead Posteriorly rotated ears Kyphosis Anteverted nares Paraparesis Optic atrophy Epicanthus Depressed nasal bridge Feeding difficulties Abnormal facial shape Elevated intracellular cystine Abnormality of the face Coxa valga Nephrogenic diabetes insipidus Abnormality of the cerebral white matter Neurological speech impairment Paralysis Thrombocytopenia Intrauterine growth retardation Microcephaly Decreased beta-galactosidase activity Lumbar kyphosis Developmental stagnation Decerebrate rigidity Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Abnormality of the spleen Retinal pigment epithelial mottling Corneal crystals Oligomenorrhea Short stature Photophobia Respiratory insufficiency Intellectual disability, mild Cerebellar atrophy Hyperactivity Failure to thrive Abnormal adipose tissue morphology Retinopathy Increased HDL cholesterol concentration Neuropathic arthropathy Decreased LDL cholesterol concentration Respiratory failure Hyperlipoproteinemia Gout Proteinuria Malabsorption Renal tubular dysfunction Aminoaciduria Dysphasia Hypophosphatemia Rickets Polydipsia Hypokalemia Growth abnormality Type I diabetes mellitus Delayed puberty Stereotypy Dehydration Pigmentary retinopathy Aciduria Nephropathy Stage 5 chronic kidney disease Spasmus nutans


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