Cardiomyopathy, and Ptosis

Diseases related with Cardiomyopathy and Ptosis

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


Top matches:

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

Low match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

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

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Other less relevant matches:

Low match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

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 PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ptosis

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Ophthalmoplegia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Global developmental delay Hypertrophic cardiomyopathy Downslanted palpebral fissures Hypertelorism Pulmonic stenosis Short stature

Rare Symptoms - Less than 30% cases


Proximal amyotrophy Hepatomegaly Nephrotic syndrome Acidosis Myalgia Arrhythmia Macrocephaly Congestive heart failure Exercise intolerance Dysphagia External ophthalmoplegia Peripheral axonal neuropathy Low-set ears Abnormality of the liver Elevated hepatic transaminase Intellectual disability Short neck Fatigue Motor delay Low-set, posteriorly rotated ears Left ventricular hypertrophy Ventricular hypertrophy Webbed neck Limb muscle weakness Gowers sign Dilated cardiomyopathy Atrial septal defect Cataract Specific learning disability Mildly elevated creatine phosphokinase Metabolic acidosis Astigmatism Lower limb muscle weakness Increased serum lactate Oligohydramnios Cardiomegaly Amblyopia Progressive extrapyramidal muscular rigidity Hypothyroidism Difficulty running Chorea Abnormality of extrapyramidal motor function Involuntary movements Stereotypy Increased variability in muscle fiber diameter Resting tremor Centrally nucleated skeletal muscle fibers Insulin-resistant diabetes mellitus Constipation Orofacial dyskinesia Abnormal posturing Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Congenital nephrotic syndrome Central core regions in muscle fibers Encephalopathy Progressive external ophthalmoplegia Mitral valve prolapse High palate Progressive muscle weakness Failure to thrive Immunodeficiency Recurrent infections Hepatosplenomegaly Lymphadenopathy Eczema Psoriasiform dermatitis Scoliosis Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Pyelonephritis Gastrointestinal inflammation Growth delay Neuropathic arthropathy Myopia Sparse hair Anteverted nares Posteriorly rotated ears Hyperkeratosis Proptosis High forehead Coarse facial features Broad forehead Arthropathy Ichthyosis Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Dyskinesia Cardiac amyloidosis Difficulty walking Congenital cataract Renal insufficiency Abnormality of the sternum Thick vermilion border Wide mouth Mandibular prognathia Prominent forehead Epicanthus Abnormal facial shape Skeletal myopathy Mitochondrial myopathy Dysphonia Ragged-red muscle fibers Generalized muscle weakness Lactic acidosis Obesity Proteinuria Waddling gait Respiratory insufficiency Muscular dystrophy Scapular winging Facial palsy Hyperlordosis Muscle cramps Easy fatigability Respiratory distress Ophthalmoparesis Fatigable weakness Neck muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Cognitive impairment Skeletal muscle atrophy Glaucoma Paralysis Dystonia Bilateral facial palsy Tremor Optic atrophy Ataxia Microcephaly Hearing impairment Abdominal wall muscle weakness Abnormality of the lymphatic system Abnormality of the helix Multiple cafe-au-lait spots Prolonged bleeding time Abnormality of the thorax Abnormality of the face Cryptorchidism Generalized amyloid deposition Lattice corneal dystrophy Corneal opacity Cutis laxa Poor speech Everted lower lip vermilion Polyneuropathy Hypotension Palpitations Abnormal autonomic nervous system physiology Corneal dystrophy Mild proteinuria Bulbar palsy Orthostatic hypotension Amyloidosis Abnormality of abdomen morphology Bulbar signs Facial paralysis Pharyngitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Visual impairment and Dysphagia, related diseases and genetic alterations Cardiomyopathy and Dolichocephaly, related diseases and genetic alterations Cryptorchidism and Myopathy, related diseases and genetic alterations Peripheral neuropathy and Dandy-Walker malformation, related diseases and genetic alterations Abnormal facial shape and Abnormality of metabolism/homeostasis, related diseases and genetic alterations Hypertelorism and Hypoplasia of the maxilla, related diseases and genetic alterations

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