Generalized hypotonia, and Hypotension

Diseases related with Generalized hypotonia and Hypotension

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Hypotension that can help you solving undiagnosed cases.

Top matches:

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Other less relevant matches:

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Medium match NEUROFERRITINOPATHY

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hypotension

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Abnormal autonomic nervous system physiology Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Orthostatic hypotension Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hypotension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Global developmental delay Babinski sign Dementia Emotional lability Dystonia Constipation Peripheral neuropathy Difficulty walking Gastroesophageal reflux Chorea Gait disturbance Spasticity Hearing impairment Hypoglycemia Hyporeflexia

Rare Symptoms - Less than 30% cases

Bowel incontinence Rigidity Neonatal hypoglycemia Hypothermia Urinary incontinence Weight loss Intermittent hypothermia Recurrent infections Failure to thrive Fever Abnormal facial shape Respiratory insufficiency Sensorineural hearing impairment Diarrhea Abnormality of eye movement Choreoathetosis Cognitive impairment Cyanosis Developmental regression Mental deterioration Parkinsonism Myoclonus Memory impairment Leukodystrophy Cerebral atrophy Irritability Hyperreflexia Dysarthria Optic atrophy Behavioral abnormality Hypertonia Dehydration Muscle weakness Nystagmus Strabismus Muscular hypotonia Neuropathic arthropathy Feeding difficulties Osteomyelitis Aseptic necrosis Dysphagia Limb dystonia Hyperkeratosis Anhidrosis Hypohidrosis Syncope Tremor Vomiting Paresthesia Sensory neuropathy Mutism Ptosis Myalgia Schizophrenia Hallucinations Bradykinesia Short stature Polyhydramnios Osteopenia Corneal ulceration Abnormality of dental color Abnormality of proteoglycan metabolism Renal insufficiency Stage 5 chronic kidney disease Protruding ear Muscle cramps Neoplasm of the gallbladder Small for gestational age Prominent forehead Cholecystitis Punctate periventricular T2 hyperintense foci Abnormality of visual evoked potentials Acral ulceration Decreased number of small peripheral myelinated nerve fibers Postural hypotension with compensatory tachycardia Depressivity Reduced visual acuity Palmar hyperkeratosis Abdominal distention Bilateral sensorineural hearing impairment Intention tremor Clumsiness Frequent falls Decreased nerve conduction velocity Loss of speech Triangular face Abnormality of glycosphingolipid metabolism Increased CSF protein Delusions Progressive gait ataxia Bulbar signs Short attention span Vegetative state Autoamputation of digits Progressive peripheral neuropathy EMG: chronic denervation signs Progressive spastic quadriplegia Decerebrate rigidity Orthostatic hypotension due to autonomic dysfunction Progressive psychomotor deterioration Abnormal social behavior Generalized muscle weakness Parathyroid hyperplasia Premature birth Spastic paraparesis Areflexia Pes cavus Pes planus Paralysis Distal muscle weakness Cough Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Polyneuropathy Abnormality of the skin Abnormal blistering of the skin Paraparesis Anosmia Skeletal muscle atrophy Hammertoe Brisk reflexes Pathologic fracture Arthropathy Vocal cord paralysis Decreased number of large peripheral myelinated nerve fibers Restless legs Decreased sensory nerve conduction velocity Chronic axonal neuropathy Morphological abnormality of the central nervous system Paronychia Distal sensory loss of all modalities Civatte bodies Foot osteomyelitis Talipes equinovarus Microcephaly Nephrocalcinosis Metabolic alkalosis Hypokalemia Hypercalciuria Hypercalcemia Polyuria Diabetes insipidus Hyperparathyroidism Hyperaldosteronism Hypomagnesemia Renal salt wasting Alkalosis Chondrocalcinosis Tetany Parathyroid adenoma Increased circulating renin level Renal juxtaglomerular cell hypertrophy/hyperplasia Corneal scarring Nephrogenic diabetes insipidus Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hyposthenuria Hypochloremia Increased urinary potassium Renal potassium wasting Hyperactive renin-angiotensin system Fetal polyuria Hyperchloriduria Increased serum prostaglandin E2 Hyperprostaglandinuria Low-to-normal blood pressure Hypotrichosis of the scalp Hypokinesia Pain insensitivity Pulmonary edema Myopathy Congestive heart failure Hypertrophic cardiomyopathy Ascites Macroglossia Cardiomegaly Bradycardia Exercise intolerance Heart murmur Enlarged kidney Myoglobinuria Sinus bradycardia Biventricular hypertrophy Respiratory distress Shortened PR interval Ataxia Abnormality of metabolism/homeostasis Abnormal pyramidal sign Abnormality of movement Unsteady gait Retinal degeneration Dyskinesia Neurodegeneration Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Psychosis Cardiomyopathy Hepatomegaly Dysphonia Achalasia Gliosis Neuronal loss in central nervous system Resting tremor Neurofibrillary tangles Lewy bodies Senile plaques Paranoia Auditory hallucinations Delayed speech and language development Sensory impairment Nasal speech Adrenal insufficiency Alacrima Micrognathia Anisocoria High palate Hypertension Abnormality of the nervous system Vertigo Epiphora Blurred vision Amyloidosis Recurrent hypoglycemia Multiple myeloma Nocturia Retrograde ejaculation Involuntary movements Language impairment Lichenification Nail dysplasia Limb hypertonia Miosis Nasal obstruction Temperature instability Decreased CSF homovanillic acid Vitreomacular adhesion Hyperactivity Corneal opacity Hip dislocation Nail dystrophy Carious teeth Decreased antibody level in blood Febrile seizures Agitation Thickened skin Skin ulcer Opacification of the corneal stroma Self-injurious behavior Keratitis Impaired pain sensation Episodic fever Self-mutilation Heat intolerance Lack of skin elasticity Recurrent corneal erosions Poor wound healing Insomnia Athetosis Personality changes Decreased serum ferritin Oral-pharyngeal dysphagia Spastic diplegia Blepharospasm Hypomimic face Orofacial dyskinesia Disinhibition Laryngeal dystonia Abnormality of the basal ganglia Writer's cramp Anarthria Subcortical dementia Micrographia Akinetic mutism Hyperkinesis Cavitation of the basal ganglia Motor delay Fatigue Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Feeding difficulties in infancy Lethargy Sleep disturbance Abnormality of the face Cardiac arrest Muscle stiffness Drooling Autoamputation of foot


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