Myopathy, and Cirrhosis

Diseases related with Myopathy and Cirrhosis

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

Top matches:

Noncirrhotic portal hypertension is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016).

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Other less relevant matches:

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

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Cirrhosis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Cirrhosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Lactic acidosis Skeletal muscle atrophy Abnormality of the liver Hypertension Growth delay Ragged-red muscle fibers Acidosis Hypertriglyceridemia Pain Hepatic steatosis Skeletal myopathy Exercise intolerance Hyperreflexia Seizures Congestive heart failure Proximal muscle weakness Mitochondrial myopathy Hepatic failure Feeding difficulties Abnormality of the coagulation cascade Splenomegaly Hepatosplenomegaly Hypertrophic cardiomyopathy Portal hypertension Muscular hypotonia

Rare Symptoms - Less than 30% cases

Hyperinsulinemia Respiratory insufficiency Ascites Hearing impairment Acanthosis nigricans Hepatic fibrosis Decreased liver function Anemia Polycystic ovaries Difficulty climbing stairs Generalized hirsutism Dysphagia Ataxia Limb muscle weakness Areflexia Progressive muscle weakness Myalgia Cerebral atrophy Lipodystrophy Encephalopathy Vomiting Respiratory failure Metabolic acidosis Ketosis Reduced subcutaneous adipose tissue Distal amyotrophy Ventricular hypertrophy Insulin resistance Nystagmus Ptosis Polyneuropathy Progressive external ophthalmoplegia Periportal fibrosis External ophthalmoplegia Paresthesia Malabsorption Dyspnea Hyporeflexia Gastrointestinal dysmotility Spasticity Global developmental delay Ophthalmoplegia Esophageal varix Cholestasis Hypoglycemia Thrombocytopenia Exertional dyspnea Increased serum lactate Muscular dystrophy Peripheral neuropathy Edema Micronodular cirrhosis Severe lactic acidosis Feeding difficulties in infancy Anteverted nares Hyperbilirubinemia Depressed nasal bridge Decreased activity of mitochondrial respiratory chain Generalized aminoaciduria Sinusitis Short stature Intellectual disability, mild Hyperlipidemia Abnormality of the nervous system Depletion of mitochondrial DNA in liver Progressive hearing impairment Abnormal conjugate eye movement Recurrent sinusitis Epistaxis Cardiomegaly Elevated serum creatine phosphokinase Scarring Thin upper lip vermilion Deeply set eye Hypothermia Obesity Carcinoma Severe failure to thrive Midface retrusion Immunodeficiency Otitis media Hyponatremia Thin vermilion border Hypoalbuminemia Malar flattening Episodic vomiting Broad nasal tip Full cheeks Aminoaciduria Hepatocellular necrosis Sensorimotor neuropathy Recurrent corneal erosions Intestinal pseudo-obstruction Decreased muscle mass Axonal degeneration Scleroderma Poor appetite Abnormality of the vasculature Increased CSF protein Abnormality of the gastrointestinal tract Slender build Absent Achilles reflex Demyelinating peripheral neuropathy Abnormality of the mitochondrion Decreased number of large peripheral myelinated nerve fibers Hyperalaninemia Decreased motor nerve conduction velocity Intermittent diarrhea Gastroparesis Cytochrome C oxidase-negative muscle fibers Macrovesicular hepatic steatosis Decreased sensory nerve conduction velocity Diffuse leukoencephalopathy Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Intestinal perforation Hypointensity of cerebral white matter on MRI Atrophic muscularis propria Abnormal cell morphology Abnormality of the extraocular muscles Malnutrition Ophthalmoparesis Ketotic hypoglycemia Peripheral axonal neuropathy Intellectual disability Sensorineural hearing impairment Dysarthria Diarrhea Constipation Dementia Abdominal pain Weight loss Gastroesophageal reflux Distal muscle weakness Abnormality of the cerebral white matter Abnormality of eye movement Nausea Abnormality of mitochondrial metabolism Distal sensory impairment Abdominal distention Peripheral demyelination Chronic diarrhea Leukodystrophy Foot dorsiflexor weakness Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Leukoencephalopathy Easy fatigability Cachexia Abnormality of the hand Bilateral ptosis Jaundice Infertility Microcephaly Hyperactivity Fetal akinesia sequence Generalized edema Tubulointerstitial fibrosis Limb joint contracture Cognitive impairment Delayed speech and language development Tremor Cerebellar atrophy Hypertonia Dystonia Myoclonus Gait ataxia Akinesia Coarse facial features Mental deterioration Developmental regression Respiratory tract infection Abnormal pyramidal sign Sleep disturbance Neuronal loss in central nervous system Status epilepticus Tetraparesis Brisk reflexes Limb dystonia Myopathic facies Limb-girdle muscular dystrophy Progressive encephalopathy Glucose intolerance Gastrointestinal hemorrhage Venous thrombosis Portal fibrosis Intrahepatic portal vein sclerosis Babinski sign Narrow mouth Poor speech Triangular face Brain atrophy Delayed myelination Blue sclerae Abnormal activity of mitochondrial respiratory chain Reduced tendon reflexes Flexion contracture Talipes equinovarus Polyhydramnios Difficulty walking Hyperlordosis Dilated cardiomyopathy Arthrogryposis multiplex congenita Sudden cardiac death Waddling gait Decreased fetal movement Hydrops fetalis Loss of speech Generalized lipodystrophy Marked muscular hypertrophy Abnormality of the neck Skeletal muscle hypertrophy Coronary artery atherosclerosis Lipoatrophy Aplasia/Hypoplasia of the skin Abnormality of the musculature Secondary amenorrhea Hyperuricemia Insulin-resistant diabetes mellitus Oligomenorrhea Maternal diabetes Preeclampsia Prominent superficial veins Atherosclerosis Xanthomatosis Decreased HDL cholesterol concentration Hyperlipoproteinemia Calf muscle pseudohypertrophy Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Hyperglycemia Pancreatitis Progressive psychomotor deterioration Shock Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Scoliosis Strabismus Motor delay Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Lethargy Left ventricular hypertrophy Respiratory insufficiency due to muscle weakness Tachypnea Abnormality of the face Hyperammonemia Generalized amyotrophy Proximal tubulopathy Sideroblastic anemia Diabetes mellitus Hirsutism Amenorrhea Epidermal acanthosis Myocardial infarction Primary amenorrhea Thin skin Small intestinal dysmotility


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