In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Fatigue that can help you solving undiagnosed cases.
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly
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SOURCES: ORPHANET OMIM MENDELIAN
More info about RIPPLING MUSCLE DISEASEHereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1
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SOURCES: ORPHANET OMIM MENDELIAN
More info about HEREDITARY SPHEROCYTOSISFamilial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.
FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive
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SOURCES: ORPHANET OMIM MENDELIAN
More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATIONBecker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
BECKER MUSCULAR DYSTROPHY Is also known as bmd|becker dystrophinopathy
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Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis
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SOURCES: OMIM ORPHANET MENDELIAN
More info about FAMILIAL ISOLATED PITUITARY ADENOMAMitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).
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Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis
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SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCYType 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2
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SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about HEMOCHROMATOSIS TYPE 3Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency|hepatic carnitine palmitoyl transferase i deficiency|carnitine palmitoyl transferase ia deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|l-cpt1 deficiency|cpt1a deficiency
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SOURCES: OMIM ORPHANET MENDELIAN
More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCYSymptoms // Phenotype | % cases |
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Muscle weakness | Uncommon - Between 30% and 50% cases |
Myopathy | Uncommon - Between 30% and 50% cases |
Hypertrophic cardiomyopathy | Uncommon - Between 30% and 50% cases |
Skeletal muscle atrophy | Uncommon - Between 30% and 50% cases |
Sudden cardiac death | Uncommon - Between 30% and 50% cases |
Patients with Cardiomyopathy and Fatigue. may also develop some of the following symptoms:
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