Muscle weakness, and Diarrhea

Diseases related with Muscle weakness and Diarrhea

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

Top matches:

Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see {604936}), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).

Related symptoms:

  • Diarrhea
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.

RECURRENT INFECTIONS ASSOCIATED WITH RARE IMMUNOGLOBULIN ISOTYPES DEFICIENCY Is also known as selective igg subclass deficiency|igg subclass deficiency with iga subclass deficiency|kappa-chain deficiency|isolated igg subclass deficiency|kappa chain deficiency

Related symptoms:

  • Diarrhea
  • Recurrent infections
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Abnormal immunoglobulin level


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTIONS ASSOCIATED WITH RARE IMMUNOGLOBULIN ISOTYPES DEFICIENCY

Other less relevant matches:

Low match DESMINOPATHY

Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 Is also known as agammaglobulinemia, autosomal recessive, due to cd79a defect

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Diarrhea
  • Respiratory tract infection
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

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

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Arrhythmia Cardiomyopathy

Rare Symptoms - Less than 30% cases

Paresthesia EMG: myopathic abnormalities Skeletal myopathy Seizures Muscular hypotonia Hepatomegaly Polyneuropathy Intellectual disability Sudden cardiac death Irritability Progressive muscle weakness Exercise intolerance Myoglobinuria Encephalopathy Atrial fibrillation Myalgia Peripheral neuropathy Hypertrophic cardiomyopathy Respiratory tract infection Visual impairment Cardiac amyloidosis Abnormal ventricular filling Orthostatic syncope Ataxia Spasticity Gait disturbance Fever Biventricular hypertrophy Hypertonia Motor delay Pneumonia Rigidity Pallor Cough Peripheral edema Facial palsy Atrial arrhythmia Peripheral axonal neuropathy Recurrent hypoglycemia Exercise-induced myalgia Increased hepatic glycogen content Increased muscle glycogen content Congestive heart failure Abnormal cardiac septum morphology Impotence Coma Pericardial effusion Orthostatic hypotension Exertional dyspnea Heart block Edema of the lower limbs Right ventricular hypertrophy Reduced ejection fraction Abnormal echocardiogram Gliosis Tetraplegia Infantile muscular hypotonia Nephropathy Hepatic steatosis Dehydration Cardiomegaly Cardiac arrest Tachypnea Rhabdomyolysis Lethargy Hypoketotic hypoglycemia Decreased plasma carnitine Hepatic encephalopathy Dicarboxylic aciduria Exercise-induced myoglobinuria Hepatocellular necrosis Hepatic failure Elevated serum creatine phosphokinase Spastic tetraplegia Abnormal posturing Hallucinations Foot dorsiflexor weakness Encephalitis Severe vision loss Increased CSF protein Cerebral edema Abducens palsy Myopathy Acute encephalopathy Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Acute necrotizing encephalopathy Feeding difficulties Ketosis Hypercholesterolemia Distal muscle weakness Bronchitis Decreased antibody level in blood Otitis media Recurrent otitis media Chronic diarrhea Recurrent pneumonia Recurrent bacterial infections Agammaglobulinemia Trifascicular block Recurrent bronchitis Recurrent respiratory infections Recurrent infections Anemia Hypertension Respiratory insufficiency Neutropenia Restrictive heart failure Behavioral abnormality Right bundle branch block Dilated cardiomyopathy Proximal muscle weakness Ventricular tachycardia Respiratory insufficiency due to muscle weakness Abnormal immunoglobulin level Atrioventricular block Bulbar palsy Late-onset proximal muscle weakness Neck muscle weakness Left bundle branch block Right ventricular cardiomyopathy Hyporeflexia of lower limbs Abnormal levels of creatine kinase in blood Left anterior fascicular block Pain insensitivity Abdominal pain Dystonia Nausea Headache Hypoglycemia Abnormality of the liver Pruritus Scarring Nausea and vomiting Cirrhosis Skeletal muscle atrophy Muscle cramps Abdominal distention Hypertriglyceridemia Hyperhidrosis Decreased liver function Muscle stiffness Fatigue Abnormal autonomic nervous system physiology Chronic constipation Hyponatremia Tachycardia Hemolytic anemia Sensory neuropathy Axonal loss Psychosis Hemiparesis Motor axonal neuropathy Short stature Respiratory paralysis Wrist drop Abdominal colic Elevated urinary delta-aminolevulinic acid Joint dislocation Global developmental delay Neonatal sepsis


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