Cardiomyopathy, and Recurrent respiratory infections

Diseases related with Cardiomyopathy and Recurrent respiratory infections

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Recurrent respiratory infections that can help you solving undiagnosed cases.


Top matches:

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

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Other less relevant matches:

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


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

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Low match CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Recurrent respiratory infections

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Recurrent respiratory infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Hepatomegaly Respiratory tract infection Dilated cardiomyopathy Hearing impairment Muscular hypotonia Elevated hepatic transaminase Feeding difficulties Hypertrophic cardiomyopathy Intellectual disability Recurrent upper respiratory tract infections Pain Skeletal myopathy Motor delay Splenomegaly Short stature Hypoglycemia Respiratory distress Hyporeflexia Progressive muscle weakness Respiratory failure Myalgia Proximal muscle weakness Elevated serum creatine phosphokinase Recurrent infections Abnormality of the liver Generalized muscle weakness Respiratory insufficiency due to muscle weakness

Rare Symptoms - Less than 30% cases


Coarse facial features Hyperlordosis Hyperactivity Waddling gait Behavioral abnormality Ventricular hypertrophy Cardiomegaly Dysphagia Decreased nerve conduction velocity Diarrhea Pulmonary hypoplasia Coma Hyperammonemia Hypoketotic hypoglycemia Decreased fetal movement Skeletal muscle atrophy Areflexia Limb muscle weakness Flexion contracture Anteverted nares Mildly elevated creatine phosphokinase Joint stiffness Hepatic failure Hyperreflexia Central nervous system degeneration Peripheral neuropathy Depressed nasal bridge EMG: myopathic abnormalities Growth delay Decreased liver function Knee flexion contracture Progressive hearing impairment Hepatic steatosis Scoliosis Lethargy Difficulty walking Ptosis Immunodeficiency Eczema High palate Low-set ears Anemia Abnormality of the skeletal system Respiratory insufficiency Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Pectus excavatum Asymmetric septal hypertrophy Dysostosis multiplex Midface retrusion Sleep disturbance Coarse hair Growth abnormality Polyhydramnios Feeding difficulties in infancy Diaphragmatic paralysis Edema Hirsutism Synophrys Fatigue Vomiting Elbow flexion contracture Type 1 muscle fiber atrophy Exercise-induced rhabdomyolysis Fatigable weakness of bulbar muscles Prenatal maternal abnormality Abnormality of the amniotic fluid Recurrent myoglobinuria Reduced vital capacity Progressive peripheral neuropathy Hypertonia Pes cavus Retrognathia Rigidity Flexion contracture of finger Hip contracture Acute hepatic steatosis Poor suck Congenital hip dislocation Kyphoscoliosis Scapular winging Joint laxity Reduced tendon reflexes Tented upper lip vermilion Long face Ankle contracture Ophthalmoplegia Calf muscle hypertrophy Talipes equinovarus Cryptorchidism Weak cry Micrognathia Respiratory failure requiring assisted ventilation Neonatal hypotonia Nemaline bodies Facial palsy Visceromegaly Ataxia Delayed speech and language development Intellectual disability, severe Pneumonia Dementia Cerebral cortical atrophy Corneal opacity Progressive neurologic deterioration Split hand Limb ataxia Thickened calvaria Restlessness Dense calvaria Percussion myotonia Dysarthria Frontal bossing Short neck Absent speech Prominent forehead Aggressive behavior Wide mouth Thick eyebrow Thick lower lip vermilion Hypertrichosis Chronic diarrhea Drooling Late-onset distal muscle weakness Fetal distress Apnea Myotonia Paralysis Cough Arthrogryposis multiplex congenita Genu valgum Falls Frequent falls Joint contracture of the hand Narrow face Foot dorsiflexor weakness Infantile muscular hypotonia Congenital contracture Akinesia Mask-like facies Neck flexor weakness Myopathic facies Bulbar palsy Spinal rigidity Thin ribs Hypoventilation EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Myoglobinuria Type 1 muscle fiber predominance Breech presentation Slender build Hypoparathyroidism Hypertriglyceridemia Rhabdomyolysis Fasting hypoglycemia Clumsiness Left ventricular hypertrophy Bradycardia Delayed gross motor development Easy fatigability Decreased muscle mass Neck muscle weakness Ketonuria Excessive daytime somnolence Recurrent hypoglycemia Decreased plasma carnitine Endocardial fibroelastosis Generalized tonic-clonic seizures with focal onset Irritability Acute encephalopathy Reye syndrome-like episodes Impaired gluconeogenesis Reduced muscle carnitine level Irregular respiration Decreased carnitine level in liver Spasticity Tremor Gait disturbance Dystonia Kyphosis Cerebral atrophy Babinski sign Confusion Abdominal pain Pallor Cataract Hepatosplenomegaly Lymphadenopathy Psoriasiform dermatitis Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Pyelonephritis Gastrointestinal inflammation Pharyngitis Microcephaly Abnormal facial shape Thrombocytopenia Arrhythmia Dry skin Neutropenia Choanal atresia Gingival overgrowth Rhizomelia Lymphopenia Leukopenia Neurodevelopmental delay Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Fever Encephalopathy Jaundice Abnormal pyramidal sign Tricuspid regurgitation Acidosis Hepatic fibrosis Sinusitis Hyperlipidemia Recurrent sinusitis Ketosis Recurrent corneal erosions Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Ventriculomegaly Renal insufficiency Dilatation Distal muscle weakness Otitis media Retinopathy Small for gestational age Peripheral axonal neuropathy Lactic acidosis Distal sensory impairment Metabolic acidosis Muscle cramps Sensory impairment Hypotension Pigmentary retinopathy Hydrops fetalis Cardiac arrest Tachypnea Epistaxis Full cheeks Unsteady gait Nonspherocytic hemolytic anemia Hemolytic anemia Dyskinesia Neuronal loss in central nervous system Optic disc pallor Oligohydramnios Intention tremor Involuntary movements Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Normocytic anemia Cholecystitis Normochromic anemia Broad nasal tip Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Intellectual disability, mild Malar flattening Obesity Thin upper lip vermilion Deeply set eye Carcinoma Scarring Cirrhosis Thin vermilion border Distal amyotrophy Cellular metachromasia



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