Generalized hypotonia, and Hypertension

Diseases related with Generalized hypotonia and Hypertension

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21; and MMDS6 (OMIM ), caused by mutation in the PMPCB gene (OMIM ) on chromosome 7q22.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Other less relevant matches:

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

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

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Cerebellar atrophy
  • Hypertonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOYL TRANSFERASE 1 DEFICIENCY

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Pulmonary arterial hypertension Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Dystonia Muscular hypotonia Renal insufficiency Increased serum lactate Feeding difficulties Respiratory failure Acidosis Lactic acidosis

Rare Symptoms - Less than 30% cases

Anemia Recurrent hypoglycemia Peripheral neuropathy Vomiting Hyperechogenic kidneys Peripheral demyelination Hyponatremia Tachycardia Polyneuropathy Motor delay Choreoathetosis Intellectual disability Ptosis Cognitive impairment Dyskinesia Muscular hypotonia of the trunk Metabolic acidosis Developmental regression Hypoglycemia Encephalopathy Bradycardia Respiratory insufficiency Abdominal pain Severe lactic acidosis Cerebellar atrophy Congestive heart failure Intrauterine growth retardation Growth delay Microcephaly Ventriculomegaly Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Delayed myelination Abnormality of the liver Elevated hepatic transaminase Jaundice Cerebral cortical atrophy Coma Cerebral atrophy Hypertonia Abnormality of movement Abnormality of extrapyramidal motor function Focal-onset seizure Chorea Tetraplegia Poor head control Hyperkinesis Hyperhidrosis Involuntary movements Myoclonus Focal impaired awareness seizure Elevated serum creatine phosphokinase Self-injurious behavior Absent speech Athetosis Atrophy/Degeneration affecting the brainstem Infantile muscular hypotonia Postnatal growth retardation Tetraparesis Abnormal renal corticomedullary differentiation Type 2 muscle fiber atrophy Metabolic alkalosis Alkalosis Renal salt wasting Hypomagnesemia Hyperuricemia Polyuria Chronic kidney disease Leukopenia Ventricular hypertrophy Premature birth Proteinuria Diabetes mellitus Thrombocytopenia Elevated serum creatinine Decreased liver function Flexion contracture Spastic tetraparesis Mutism Weak cry Cardiorespiratory arrest Increased total bilirubin Hearing impairment Visual impairment Progressive muscle weakness Respiratory distress Small for gestational age Pulmonary hypoplasia Oligohydramnios Renal hypoplasia Renal dysplasia Fever Tubulointerstitial nephritis Spasticity Decreased activity of the pyruvate dehydrogenase complex Ataxia Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Respiratory paralysis Motor axonal neuropathy Hemiparesis Psychosis Sensory neuropathy Hemolytic anemia Paresthesia Constipation Behavioral abnormality Diarrhea Decreased activity of mitochondrial respiratory chain Difficulty walking Lethargy Irritability Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Decreased fetal movement Polyhydramnios Edema Fatigue Hyperalaninemia Strabismus Abnormality of the eye Retrograde ejaculation Abnormality of the nervous system Intermittent hypothermia Nocturia Multiple myeloma Hypothermia Neonatal hypoglycemia Amyloidosis Orthostatic hypotension Blurred vision Epiphora Abnormal autonomic nervous system physiology Dehydration Hypotension Syncope Vertigo Myalgia Abnormality of eye movement High palate Camptocormia Loss of speech Limb hypertonia Hyperkalemia Nephritis Oculomotor apraxia Truncal ataxia Amblyopia Frequent falls Apraxia Nephropathy Falls Stage 5 chronic kidney disease Hypochloremic metabolic alkalosis


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