Muscle weakness, and Coronary artery atherosclerosis
Diseases related with Muscle weakness and Coronary artery atherosclerosis
In the following list you will find some of the most common rare diseases related to Muscle weakness and Coronary artery atherosclerosis that can help you solving undiagnosed cases.
Top matches:
Low match CARDIOMYOPATHY, DILATED, 1S; CMD1S
- Muscle weakness
- Ventriculomegaly
- Cardiomyopathy
- Myopathy
- Congestive heart failure
More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: OMIM ORPHANET MENDELIAN
More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCYLow match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Ataxia
More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3
Other less relevant matches:
Low match LIDDLE SYNDROME
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
LIDDLE SYNDROME Is also known as pseudohyperaldosteronism type 1|pseudoaldosteronism
Related symptoms:
- Muscle weakness
- Hypertension
- Fatigue
- Renal insufficiency
- Arrhythmia
SOURCES: ORPHANET OMIM MENDELIAN
More info about LIDDLE SYNDROMELow match MULTIPLE SYMMETRIC LIPOMATOSIS
Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic
Related symptoms:
- Neoplasm
- Pain
- Anemia
- Hypertension
- Peripheral neuropathy
SOURCES: ORPHANET OMIM MENDELIAN
More info about MULTIPLE SYMMETRIC LIPOMATOSISLow match PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh
Related symptoms:
- Muscle weakness
- Fatigue
- Dysphagia
- Abdominal pain
- Pallor
SOURCES: ORPHANET OMIM MENDELIAN
More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIALow match TANGIER DISEASE
Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency
Related symptoms:
- Anemia
- Thrombocytopenia
- Abdominal pain
- Hepatosplenomegaly
- Distal muscle weakness
More info about TANGIER DISEASE
Low match MYOPATHY AND DIABETES MELLITUS
MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type
Related symptoms:
- Intellectual disability
- Generalized hypotonia
- Ataxia
- Muscle weakness
- Muscular hypotonia
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about MYOPATHY AND DIABETES MELLITUSLow match TAKAYASU ARTERITIS
Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease
Related symptoms:
- Seizures
- Muscle weakness
- Anemia
- Hypertension
- Fever
SOURCES: ORPHANET OMIM MENDELIAN
More info about TAKAYASU ARTERITISLow match SNEDDON SYNDROME
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome
Related symptoms:
- Seizures
- Muscle weakness
- Pain
- Visual impairment
- Motor delay
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about SNEDDON SYNDROMETop 5 symptoms//phenotypes associated to Muscle weakness and Coronary artery atherosclerosis
| Symptoms // Phenotype | % cases |
|---|---|
| Fatigue | Uncommon - Between 30% and 50% cases |
| Myocardial infarction | Uncommon - Between 30% and 50% cases |
| Myalgia | Uncommon - Between 30% and 50% cases |
| Proximal muscle weakness | Uncommon - Between 30% and 50% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Muscle weakness and Coronary artery atherosclerosis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hypertension Seizures Diabetes mellitus Dysarthria Pain Ragged-red muscle fibers Paresthesia Limb muscle weakness Gait disturbance Ataxia Cerebral ischemia Anemia Migraine Pulmonary arterial hypertension Stroke MyopathyRare Symptoms - Less than 30% cases
Pulmonary embolism EMG: myopathic abnormalities Peripheral arterial stenosis Behavioral abnormality Mitochondrial myopathy Cerebral atrophy Amaurosis fugax Dysphagia Severe global developmental delay Arterial stenosis Tremor Left ventricular hypertrophy Dilatation Visual impairment Progressive muscle weakness Hypertrophic cardiomyopathy Exercise intolerance Vasculitis Ventricular hypertrophy Arrhythmia Thromboembolism Nephropathy Muscle cramps Sensory neuropathy Motor delay Abdominal pain Cardiomyopathy Arthralgia Facial palsy Transient ischemic attack Hypothyroidism Memory impairment Intellectual disability Global developmental delay Generalized hypotonia Dementia Elevated serum creatine phosphokinase Hyporeflexia Arthropathy Chronic noninfectious lymphadenopathy Coronary artery stenosis Accelerated atherosclerosis Hypocholesterolemia Facial diplegia Syringomyelia Ectropion Progressive peripheral neuropathy Distal muscle weakness Hypertriglyceridemia Aplastic anemia Increased HDL cholesterol concentration Decreased LDL cholesterol concentration Abnormal adipose tissue morphology Pallor Hemolytic anemia Abnormal bleeding Pancytopenia Bone marrow hypocellularity Myelodysplasia Alcoholism Hyperlipoproteinemia Acute myeloid leukemia Gout Hypercoagulability Angina pectoris Peripheral axonal neuropathy Abnormal renal physiology Carotid artery stenosis Hemoglobinuria Hypoplastic anemia Oligomenorrhea Lipoma Cerebral artery stenosis Thrombocytopenia Hepatosplenomegaly Neuropathic arthropathy Macrocytic anemia Corneal opacity Nail dystrophy Dry skin Abnormal thrombosis Weakness of orbicularis oculi muscle Impaired thermal sensitivity Personality changes Increased inflammatory response Headache Mental deterioration Developmental regression Paralysis Confusion Vertigo Chorea Hemiparesis Systemic lupus erythematosus Hemiplegia Intracranial hemorrhage Heart murmur Arteritis Cutis marmorata Aphasia Visual field defect Atrophic scars Thrombocytosis Acrocyanosis Arteriovenous malformation Facial paralysis Hemianopia Thromboembolic stroke Vascular skin abnormality Antiphospholipid antibody positivity Hypertensive crisis Gastrointestinal infarctions Orange discoloured tonsils Neurological speech impairment Muscular hypotonia Difficulty walking Type II diabetes mellitus Type I diabetes mellitus Proximal amyotrophy Decreased activity of mitochondrial complex IV Axonal degeneration Fever Hyperhidrosis Weight loss Arthritis Retinopathy Chest pain Abnormal endocardium morphology Subcutaneous nodule Anorexia Skin ulcer Aortic regurgitation Psoriasiform dermatitis Abnormal heart valve morphology Hemoptysis Gangrene Reduced consciousness/confusion Abnormal aortic valve morphology Inflammatory abnormality of the eye Abnormal pattern of respiration Ascending tubular aorta aneurysm Multiple lipomas Subsarcolemmal accumulations of abnormally shaped mitochondria Oral-pharyngeal dysphagia Hallucinations Encephalopathy Hyperactivity Abnormality of the nervous system Apnea Attention deficit hyperactivity disorder Lethargy Coma Waddling gait Epileptic encephalopathy Hypsarrhythmia Progressive neurologic deterioration Paraparesis Intellectual disability, severe Incoordination Poor suck Delusions Homocystinuria Hyperhomocystinemia Short stature Hearing impairment Sensorineural hearing impairment Cataract Ptosis Cognitive impairment Intellectual disability, mild Hypoplasia of the corpus callosum Respiratory insufficiency Left ventricular noncompaction Congestive heart failure Dilated cardiomyopathy Pulmonic stenosis Coarctation of aorta Atrial fibrillation Shock Bicuspid aortic valve Ventricular arrhythmia Tricuspid regurgitation Pulmonary artery stenosis Left bundle branch block T-wave inversion Spasticity Abnormal left ventricle morphology First degree atrioventricular block Reduced systolic function Cardiogenic shock Aortic arch aneurysm Left ventricular noncompaction cardiomyopathy Pulmonary artery hypoplasia ST segment depression Ebstein anomaly of the tricuspid valve Microcephaly Scoliosis Failure to thrive Skeletal muscle atrophy Depressivity Abnormality of mitochondrial metabolism Decreased circulating renin level Progressive external ophthalmoplegia Limb-girdle muscle weakness Sensory ataxia Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Ventriculomegaly Renal insufficiency Constipation Hypokalemia Alkalosis Metabolic alkalosis Hypokalemic metabolic alkalosis Insomnia Neoplasm Hepatomegaly Babinski sign Pes cavus Joint stiffness Abnormality of the liver Tachycardia Polyneuropathy Abnormality of the skin Insulin resistance Hoarse voice Reduced tendon reflexes Bipolar affective disorder Resting tremor Areflexia Bradykinesia Hypogonadism Cerebral cortical atrophy Rigidity Ophthalmoplegia Lower limb muscle weakness Generalized muscle weakness Parkinsonism Gliosis Brain atrophy Increased serum lactate Amenorrhea Status epilepticus Abnormality of the thyroid gland Diplopia Bradycardia External ophthalmoplegia Progressive hearing impairment Mutism Dysphonia Bilateral ptosis Premature ovarian insufficiency Apathy Ophthalmoparesis Ventricular fibrillation Sensory axonal neuropathy Lupus anticoagulantIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Blue sclerae, related diseases and genetic alterations Autoimmunity and Gynecomastia, related diseases and genetic alterations Motor delay and Tetralogy of Fallot, related diseases and genetic alterations Pain and Postaxial polydactyly, related diseases and genetic alterations