Cardiomyopathy, and Dysphagia

Diseases related with Cardiomyopathy and Dysphagia

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


Top matches:

Low match DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT


Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.

DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT Is also known as distal abd-filaminopathy|williams distal myopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Dysphagia
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial 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 ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17


Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD


Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD

Low match NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11


NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Muscle weakness
  • High palate
  • Gait disturbance
  • Dysphagia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME


Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Low match DISTAL MYOTILINOPATHY


Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Low match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Low match X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Dysphagia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Ptosis Generalized hypotonia Lactic acidosis Elevated serum creatine phosphokinase Generalized muscle weakness Scoliosis Gait disturbance Myalgia Abnormality of mitochondrial metabolism

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Polyneuropathy Feeding difficulties Pain Peripheral neuropathy Respiratory failure Gowers sign Dysphonia Scapular winging Exercise intolerance Congestive heart failure Increased serum lactate Muscular dystrophy Respiratory distress Hyporeflexia Facial palsy Skeletal muscle atrophy Distal muscle weakness Flexion contracture Rimmed vacuoles Ophthalmoplegia Myofibrillar myopathy Muscle fiber cytoplasmatic inclusion bodies Abnormality of the helix Autophagic vacuoles Hyporeflexia of lower limbs Abnormality of the thorax Prolonged bleeding time Multiple cafe-au-lait spots Limb-girdle muscular dystrophy Achilles tendon contracture Centrally nucleated skeletal muscle fibers Muscle stiffness Abnormality of the lymphatic system Distal amyotrophy Abdominal wall muscle weakness Dysarthria Lower limb muscle weakness Areflexia Limb muscle weakness Pneumonia Progressive distal muscle weakness Neuronal loss in central nervous system Seizures Short neck Limited neck flexion Scapuloperoneal weakness Stiff neck Axial muscle weakness Limb-girdle muscle weakness Spinal rigidity Skeletal muscle hypertrophy Back pain Left ventricular hypertrophy Ventricular hypertrophy Rigidity Arrhythmia Dilatation Hypertension Cerebellar atrophy Decreased activity of mitochondrial respiratory chain Astrocytosis Motor deterioration Hypoplastic left heart Neonatal respiratory distress Bradycardia Specific learning disability Epileptic encephalopathy Mental deterioration Neonatal hypotonia EEG abnormality Cerebellar hypoplasia Patent ductus arteriosus Encephalopathy Abnormality of the face Pes cavus Webbed neck Mitochondrial myopathy Infantile muscular hypotonia Metabolic acidosis Dilated cardiomyopathy Muscular hypotonia Sensorineural hearing impairment Failure to thrive Growth delay Microcephaly Hearing impairment Global developmental delay Skeletal myopathy Ragged-red muscle fibers Hyperalaninemia External ophthalmoplegia Congenital cataract Obesity Fatigue Cognitive impairment Cataract Abnormality of the calf musculature Thenar muscle weakness Distal upper limb amyotrophy Distal lower limb amyotrophy Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Abnormality of the basal ganglia Cytochrome C oxidase-negative muscle fibers Pulmonic stenosis Progressive muscle weakness Low-set, posteriorly rotated ears Downslanted palpebral fissures Cryptorchidism Hypertelorism Short stature Reduced vital capacity Nemaline bodies Hypokinesia Myopathic facies Atrioventricular block Poor head control Waddling gait Decreased activity of mitochondrial complex I Pectus excavatum Talipes equinovarus High palate Fatty replacement of skeletal muscle Organic aciduria Supraventricular tachycardia Visual impairment Hyperglutaminemia Decreased activity of mitochondrial complex IV Myocardial necrosis Abnormal mitochondrial morphology Oroticaciduria Hip flexor weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Microcornea, related diseases and genetic alterations Obesity and Waddling gait, related diseases and genetic alterations Obesity and Myoclonus, related diseases and genetic alterations Immunodeficiency and Autism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more