Muscle weakness, and Nausea and vomiting

Diseases related with Muscle weakness and Nausea and vomiting

In the following list you will find some of the most common rare diseases related to Muscle weakness and Nausea and vomiting that can help you solving undiagnosed cases.

Top matches:

Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.

FAMILIAL HYPERALDOSTERONISM TYPE II Is also known as fh ii|familial adrenal adenoma|familial hyperaldosteronism type 2|fh2|fh-ii

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Headache
  • Nausea
  • Epistaxis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL HYPERALDOSTERONISM TYPE II

Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (OMIM ) activity are variable associated findings (summary by Mansfield et al., 1997). Genetic Heterogeneity of Pseudohypoaldosteronism Type IIPHA2A has been mapped to chromosome 1q31-q42. PHA2B (OMIM ) is caused by mutations in the WNK4 gene on chromosome 17q21 (OMIM ). PHA2C (OMIM ) is caused by mutations in the WNK1 gene on chromosome 12p13 (OMIM ). PHA2D (OMIM ) is caused by mutations in the KLHL3 gene (OMIM ) on chromosome 5q31. PHA2E (OMIM ) is caused by mutations in the CUL3 gene (OMIM ) on chromosome 2q36.Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).

PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A Is also known as hypertensive hyperkalemia, familial|hyperpotassemia and hypertension, familial|gordon hyperkalemia-hypertension syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

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

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.

FAMILIAL HYPERALDOSTERONISM TYPE I Is also known as aldosteronism, sensitive to dexamethasone|dexamethasone-sensitive hypertension|familial hyperaldosteronism type 1|glucocorticoid-sensitive hypertension|gra|glucocorticoid-remediable aldosteronism|gsh|glucocorticoid-suppressible hyperaldosteronism|fh i|fh1

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Headache
  • Stroke
  • Nausea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL HYPERALDOSTERONISM TYPE I

Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (OMIM ). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (OMIM ), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).

CONGENITAL ISOLATED ACTH DEFICIENCY Is also known as adrenocorticotropic hormone deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Fatigue
  • Vomiting
  • Depressivity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ISOLATED ACTH DEFICIENCY

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Nausea and vomiting

Symptoms // Phenotype % cases
Nausea Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Nausea and vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Headache Fatigue

Rare Symptoms - Less than 30% cases

Hypoglycemia Dysarthria Hemiparesis Ataxia Irritability Psychosis Failure to thrive Spasticity Dystonia Skeletal muscle atrophy Hyperkalemia Diarrhea Increased serum lactate Dysmetria Global developmental delay Intellectual disability Pain Hyponatremia Acidosis Epistaxis Tinnitus Short stature Hypokalemia Intracranial hemorrhage Secretory adrenocortical adenoma Metabolic acidosis Hyperaldosteronism Adrenal hyperplasia Abnormal circulating renin Dexamethasone-suppresible primary hyperaldosteronism Decreased circulating renin level Microcephaly Fever Adrenal hypoplasia Neonatal hypoglycemia Primary adrenal insufficiency Adrenocorticotropic hormone deficiency Nystagmus Motor delay Decreased circulating cortisol level Geographic tongue Oligoarthritis Pustule Skin rash Nail dystrophy Nail dysplasia Epidermal acanthosis Adrenocorticotropin deficient adrenal insufficiency Psoriasiform dermatitis Osteomyelitis Hypoglycemic seizures Parakeratosis Erythema Fasting hypoglycemia Furrowed tongue Cholangitis Chills Neutrophilia Asthenia Periostitis Palmoplantar pustulosis Leukocytosis Intention tremor Hyperreflexia Focal impaired awareness seizure Myopathy Proximal muscle weakness Postnatal growth retardation Lactic acidosis Focal-onset seizure EMG abnormality Ragged-red muscle fibers Gowers sign Absent smooth pursuit Toe walking Mitochondrial myopathy Progressive proximal muscle weakness Episodic vomiting Hyperalaninemia Increased serum pyruvate Vaginal fistula Sensorineural hearing impairment Progressive extrapyramidal movement disorder Tremor Leukodystrophy Hypoplasia of the corpus callosum Intellectual disability, mild Difficulty walking Muscular hypotonia of the trunk Abnormality of extrapyramidal motor function Adrenal insufficiency Lower limb spasticity Poor head control Infantile axial hypotonia CNS hypomyelination Poor eye contact Diffuse cerebral atrophy Developmental stagnation Pseudobulbar paralysis Lower limb hypertonia Cerebral hypomyelination Hyperintensity of cerebral white matter on MRI Prolonged neonatal jaundice Exercise-induced myalgia Anorexia Reduced consciousness/confusion Limitation of joint mobility Migraine Cerebral calcification Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Malignant neoplasm of the central nervous system Macrocephaly Muscular hypotonia Anemia Peripheral neuropathy Respiratory insufficiency Behavioral abnormality Constipation Abdominal pain Hydrocephalus Hyperkalemic metabolic acidosis Tachycardia Hypoplasia of dental enamel Metabolic alkalosis Abnormality of the adrenal glands Glucocortocoid-insensitive primary hyperaldosteronism Growth delay Cognitive impairment Abnormality of the dentition Paralysis Abnormality of dental enamel Hyperchloremic acidosis Renal salt wasting Decreased circulating aldosterone level Periodic paralysis Pseudohypoaldosteronism Hyperchloremic metabolic acidosis Periodic hyperkalemic paralysis Hyperchloremia Paresthesia Hemolytic anemia Hepatitis Preeclampsia Recurrent hypoglycemia Increased hepatic glycogen content Increased muscle glycogen content Stroke Abnormality of the urinary system Polydipsia Cerebral hemorrhage Adrenocortical adenoma Myoglobinuria Adrenogenital syndrome Caesarian section Depressivity Weight loss Jaundice Growth hormone deficiency Hypotension Ketosis Hypercholesterolemia Sensory neuropathy Myalgia Polyneuropathy Motor axonal neuropathy Respiratory paralysis Wrist drop Abdominal colic Elevated urinary delta-aminolevulinic acid Hepatomegaly Scarring Exercise intolerance Cirrhosis Muscle cramps Abdominal distention Hypertriglyceridemia Progressive muscle weakness Decreased liver function Muscle stiffness Moderate sensorineural hearing impairment


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