Muscle weakness, and Cirrhosis

Diseases related with Muscle weakness and Cirrhosis

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

Top matches:

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE 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

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Other less relevant matches:

X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

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

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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

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

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Exercise intolerance Cardiomyopathy Decreased liver function Fatigue Pain Lactic acidosis Abnormality of the liver Intellectual disability Skeletal muscle atrophy Hyporeflexia Myopathy Dyspnea Ketosis Anemia Splenomegaly Short stature Muscular hypotonia Hypoglycemia Acidosis

Rare Symptoms - Less than 30% cases

Feeding difficulties Pallor Prolonged neonatal jaundice Ataxia Hepatosplenomegaly Hyperpigmentation of the skin Glucose intolerance Sideroblastic anemia Abnormality of iron homeostasis Peripheral neuropathy Areflexia Arthropathy Increased serum lactate Exertional dyspnea Hypertension Nystagmus Congestive heart failure Hepatic failure Dilated cardiomyopathy Lethargy Jaundice Edema Portal hypertension Ragged-red muscle fibers Motor delay Hypertriglyceridemia Abdominal distention Diarrhea Progressive muscle weakness Vomiting Myalgia Recurrent hypoglycemia Hepatic fibrosis Hypercholesterolemia Respiratory insufficiency Dysphagia Ptosis Strabismus Flexion contracture Scoliosis Difficulty climbing stairs Limb joint contracture Tubulointerstitial fibrosis Generalized edema Esophageal varix Fetal akinesia sequence Hyperlipidemia Talipes equinovarus Akinesia Myopathic facies Polyhydramnios Limb-girdle muscular dystrophy Reduced tendon reflexes Hypoplasia of the corpus callosum Decreased fetal movement Waddling gait Sudden cardiac death Ascites Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Hyperlordosis Proximal muscle weakness Difficulty walking Hydrops fetalis Fever Elevated transferrin saturation Periventricular leukomalacia Sensorimotor neuropathy Increased body weight Increased susceptibility to fractures Decreased number of peripheral myelinated nerve fibers Abnormality of the immune system Acute hepatic failure Recurrent corneal erosions Pain insensitivity Progressive neurologic deterioration Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Corneal ulceration Acral ulceration Painless fractures due to injury Endometriosis Reye syndrome-like episodes Cholestasis Sensory neuropathy Respiratory failure Tachypnea Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Metabolic acidosis Ventricular hypertrophy Left ventricular hypertrophy Respiratory insufficiency due to muscle weakness Shock Hyperammonemia Hepatic steatosis Abnormality of the coagulation cascade Generalized amyotrophy Skeletal myopathy Proximal tubulopathy Dystonia Developmental regression Distal muscle weakness Abnormality of the cerebral white matter Abnormality of endocrine pancreas physiology Increased serum ferritin Abnormality of the anterior pituitary Microcytic anemia Exercise-induced myalgia Myoglobinuria Vertigo Falls Muscle stiffness Myelodysplasia Macrocytic anemia Fava bean-induced hemolytic anemia Megaloblastic anemia Anemia of inadequate production Hypochromic microcytic anemia Hypocholesterolemia Muscle cramps Nausea Hypolipidemia Increased hepatic glycogen content Kernicterus Spasticity Leukocytosis Hemolytic anemia Lymphoma Abnormality of the cardiovascular system Meningitis Hyperbilirubinemia Back pain Osteomyelitis Unconjugated hyperbilirubinemia Increased muscle glycogen content Hodgkin lymphoma Reticulocytosis Anisocytosis Poikilocytosis Hemoglobinuria Nonspherocytic hemolytic anemia Thiamine-responsive megaloblastic anemia Nausea and vomiting Increased serum iron Delayed puberty Diabetes mellitus Abdominal pain Arthritis Portal fibrosis Bile duct proliferation Fasting hypoglycemia Infertility Osteoporosis Amenorrhea Hypogonadotrophic hypogonadism Azoospermia Impotence Generalized hyperpigmentation Neoplasm Congenital hepatic fibrosis Hypogonadism Arrhythmia Hyperreflexia Triangular face Scarring Irritability Babinski sign Narrow mouth Malabsorption Poor speech Paresthesia Brain atrophy Hypoglycemic seizures Delayed myelination Headache Blue sclerae Seizures Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Osteomyelitis leading to amputation due to slow healing fractures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Hepatic failure, related diseases and genetic alterations Tremor and Diarrhea, related diseases and genetic alterations Edema and Chronic myelogenous leukemia, related diseases and genetic alterations Cardiomyopathy and Hypopigmentation of the skin, related diseases and genetic alterations