Muscle weakness, and Hepatitis

Diseases related with Muscle weakness and Hepatitis

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


Top matches:

Low match PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT


Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).

Related symptoms:

  • Ataxia
  • Fever
  • Tremor
  • Myalgia
  • Lower limb muscle weakness


SOURCES: OMIM MENDELIAN

More info about PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT

Low match CONGENITAL ISOLATED ACTH DEFICIENCY


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

Low match PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

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Other less relevant matches:

Low match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Top 5 symptoms//phenotypes associated to Muscle weakness and Hepatitis

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Jaundice Respiratory failure Migraine Spasticity Abnormality of the liver Dyspnea Myopathy Abnormality of the cerebral white matter Cardiomyopathy Peripheral neuropathy Tremor Cholelithiasis Splenomegaly Global developmental delay Behavioral abnormality Feeding difficulties Depressivity Generalized hypotonia Diarrhea

Rare Symptoms - Less than 30% cases


Hepatic steatosis Elevated hepatic transaminase Chest pain Portal fibrosis Hypogonadism Elevated serum creatine phosphokinase Intellectual disability, mild Short stature Hypogonadotrophic hypogonadism Pallor Irritability Hypertrophic cardiomyopathy Exercise intolerance Hallucinations Respiratory distress Abnormality of extrapyramidal motor function Neurological speech impairment Developmental regression EEG abnormality Myoclonus Dementia Cognitive impairment Diffuse cerebral atrophy Muscular hypotonia Ptosis Skeletal muscle atrophy Cerebral calcification Arrhythmia Ophthalmoplegia Cerebral atrophy Dystonia Cerebellar atrophy Nystagmus EMG abnormality Encephalitis External ophthalmoplegia Osteoporosis Ophthalmoparesis Pneumonia Hepatosplenomegaly Nephrolithiasis Abnormal facial shape Microcephaly Cholestasis Poor head control Neoplasm Hyponatremia Hypotension Vomiting Anorexia Failure to thrive Strabismus Lower limb muscle weakness Edema Myalgia Hepatic failure Nausea Thrombocytopenia Abnormality of the skeletal system Prolonged neonatal jaundice Hypoglycemia Nausea and vomiting Hepatomegaly Anemia Growth delay Midface retrusion EEG with irregular generalized spike and wave complexes Gait disturbance Hydrocephalus Dysphagia Mandibular prognathia Talipes equinovarus Areflexia Facial palsy Polyhydramnios Inability to walk Dental malocclusion Abnormal bleeding Sinus tachycardia Cytochrome C oxidase-negative muscle fibers Diffuse cerebellar atrophy Fatty replacement of skeletal muscle Generalized muscle weakness Long face High forehead Arachnodactyly Limb muscle weakness EEG with photoparoxysmal response Dolichocephaly Paralysis Apnea Kyphoscoliosis Macrocephaly Intrahepatic cholestasis Myopia Frontotemporal dementia Global systolic dysfunction Myelopathy Decreased HDL cholesterol concentration Precocious atherosclerosis Xanthomatosis Angina pectoris Delusions Pseudobulbar paralysis Abnormality of the periventricular white matter Agitation Abnormality of vision Hypercholesterolemia Atherosclerosis Joint dislocation Truncal ataxia Lacticaciduria Xanthelasma High palate EEG with generalized slow activity Abnormality of thalamus morphology Flexion contracture Cryptorchidism Hip dysplasia Scoliosis Abnormality of central somatosensory evoked potentials Tuberous xanthoma Abnormality of the dentate nucleus Weakness of facial musculature Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Waddling gait Severe muscular hypotonia Decreased fetal movement Increased serum lactate Palpitations Status epilepticus Pulmonary arterial hypertension Wolff-Parkinson-White syndrome Generalized-onset seizure Gait imbalance Generalized myoclonic seizures Left ventricular hypertrophy Sensory neuropathy Lactic acidosis Abnormality of movement Generalized tonic-clonic seizures Stroke-like episode Mental deterioration Acidosis Increased CSF lactate Ventricular tachycardia Optic atrophy Multiple lipomas Ventricular extrasystoles Progressive external ophthalmoplegia Mitochondrial myopathy Lipoma Abnormality of the endocrine system Hyperthyroidism Muscle fibrillation Mildly elevated creatine phosphokinase Ragged-red muscle fibers Right bundle branch block Sensory axonal neuropathy Abnormality of mitochondrial metabolism Hyperkinesis Supraventricular tachycardia EMG: myopathic abnormalities Delayed gross motor development Hypoplasia of the corpus callosum Sensorineural hearing impairment Progressive muscle weakness Sleep apnea Myotonia Right ventricular cardiomyopathy Pyloric stenosis Abnormal echocardiogram Atrioventricular block Hemangioma Increased serum pyruvate Mask-like facies Decreased activity of mitochondrial respiratory chain Motor axonal neuropathy Accelerated skeletal maturation Nephrocalcinosis Abnormality of brainstem morphology Narrow face Decreased liver function Neonatal respiratory distress Long fingers Chronic diarrhea Cavernous hemangioma Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Diaphragmatic eventration Hypokinesia Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hearing impairment Basal ganglia calcification Progressive neurologic deterioration Tachycardia Malignant hyperthermia Rhabdomyolysis Abnormality of the coagulation cascade Cardiac arrest Bifid uvula Muscle cramps Delayed puberty Hyperinsulinemic hypoglycemia Dilated cardiomyopathy Cleft lip Hypothyroidism Prominent forehead Cleft palate Micrognathia Reduced beta/alpha synthesis ratio Pierre-Robin sequence Small face Abnormality of temperature regulation Abnormal protein glycosylation Proteinuria Arthralgia Abdominal pain Headache Renal insufficiency Pain Type II transferrin isoform profile Type I transferrin isoform profile Cerebral venous thrombosis Increased muscle glycogen content Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Abnormality of iron homeostasis Hypochromic anemia Confusion Neonatal hypoglycemia Adrenocorticotropin deficient adrenal insufficiency Hypoglycemic seizures Fasting hypoglycemia Adrenocorticotropic hormone deficiency Decreased circulating cortisol level Adrenal hypoplasia Primary adrenal insufficiency Abnormality of the dentition Hyperkalemia Adrenal insufficiency Psychosis Growth hormone deficiency Weight loss Recurrent spontaneous abortion Increased circulating cortisol level Motor delay Delayed myelination Abnormal hemoglobin Microcytic anemia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Anemia of inadequate production Anisocytosis Abnormality of the skull Osteomalacia Reduced bone mineral density Neoplasm of the liver Venous thrombosis Skin ulcer Postural instability Osteopenia Delayed skeletal maturation Hypermethioninemia Hypertyrosinemia Cough Lymphadenopathy Myocardial infarction Vegetative state Chilblains CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Morphological abnormality of the pyramidal tract Deep white matter hypodensities Acrocyanosis Progressive encephalopathy Episodic fever Atrophy/Degeneration affecting the brainstem Congenital glaucoma Petechiae Spastic diplegia Chronic CSF lymphocytosis Increased CSF interferon alpha Cerebral palsy Malabsorption Intention tremor Optic disc pallor Parkinsonism Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Paraplegia Congenital cataract Cataract Spastic paraplegia Abnormal pyramidal sign Joint stiffness Abnormality of the eye Aggressive behavior Dysarthria Hyperreflexia Systemic lupus erythematosus Leukoencephalopathy Hematuria Pericarditis Recurrent pharyngitis Reduced consciousness/confusion Chronic lung disease Myocarditis Pulmonary infiltrates Hemoptysis Cellulitis Chills Restrictive ventilatory defect Shock Pancreatitis Bone marrow hypocellularity Lymphopenia Abnormal lung morphology Sepsis Abnormality of the pleura Endocarditis Leukodystrophy Severe global developmental delay Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Spastic tetraplegia Peripheral demyelination Brain atrophy Tetraplegia Skin rash Dilatation Feeding difficulties in infancy Muscular hypotonia of the trunk Cerebral cortical atrophy Glaucoma Agenesis of corpus callosum Encephalopathy Recurrent infections Basal ganglia necrosis



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