Myopathy, and Left ventricular hypertrophy

Diseases related with Myopathy and Left ventricular hypertrophy

In the following list you will find some of the most common rare diseases related to Myopathy and Left ventricular hypertrophy that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12


Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Myalgia
  • Scarring


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 Is also known as cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

Medium match CARDIOMYOPATHY, DILATED, 1I; CMD1I


Related symptoms:

  • Muscle weakness
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1I; CMD1I

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium 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

Medium match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Medium match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K


Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Medium 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

Medium match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Top 5 symptoms//phenotypes associated to Myopathy and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Ventricular hypertrophy Very Common - Between 80% and 100% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Limb-girdle muscle weakness Motor delay Flexion contracture Skeletal muscle atrophy Respiratory insufficiency Proximal muscle weakness Muscular dystrophy Elevated hepatic transaminase Hypertrophic cardiomyopathy Sudden cardiac death Feeding difficulties Myalgia Hepatomegaly Generalized hypotonia Cardiomegaly Neonatal hypotonia Exercise intolerance Congestive heart failure Ptosis Difficulty climbing stairs

Rare Symptoms - Less than 30% cases


Metabolic acidosis Increased serum lactate Lower limb muscle weakness Limb muscle weakness Acidosis Respiratory failure Calf muscle hypertrophy Dysphagia Spinal rigidity Limb-girdle muscular dystrophy Generalized amyotrophy Skeletal muscle hypertrophy Lethargy Progressive muscle weakness Dilatation Gait disturbance Arrhythmia Difficulty walking Waddling gait Difficulty running Gowers sign Lactic acidosis Midface retrusion Exertional dyspnea Hypertension Fatigue Dyspnea Dilated cardiomyopathy Atrial fibrillation Ventricular tachycardia Growth delay Respiratory insufficiency due to muscle weakness Delayed speech and language development Hyperammonemia Paroxysmal atrial fibrillation Congenital muscular dystrophy Ragged-red muscle fibers Easy fatigability Lumbar hyperlordosis Cough Abnormality of the coagulation cascade Ketosis Autistic behavior Abdominal pain Skeletal myopathy Respiratory distress Microcephaly Myofibrillar myopathy Intellectual disability Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Paroxysmal supraventricular tachycardia Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal tubulopathy Proximal lower limb amyotrophy Sick sinus syndrome Atrial arrhythmia Abnormal echocardiogram Abnormal atrioventricular conduction Pelvic girdle muscle weakness Increased variability in muscle fiber diameter Hypokinesia Cirrhosis Back pain Muscular hypotonia of the trunk Areflexia Hypoplasia of the corpus callosum Anemia Strabismus Failure to thrive Nystagmus Hip flexor weakness Limited neck flexion Scapuloperoneal weakness Stiff neck Axial muscle weakness Rimmed vacuoles Shock Dysphonia Asymmetric septal hypertrophy Scapular winging Rigidity Scarring Short neck Tachypnea Pain Thigh hypertrophy Triceps weakness Impaired visuospatial constructive cognition Hypoglycosylation of alpha-dystroglycan Ankle contracture Abnormal glycosylation Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Achilles tendon contracture Atrioventricular block Palpitations Hypothyroidism Global developmental delay Congenital nephrotic syndrome Progressive external ophthalmoplegia External ophthalmoplegia Amblyopia Nephrotic syndrome Oligohydramnios Immunodeficiency Astigmatism Hepatosplenomegaly Thin upper lip vermilion Ophthalmoplegia Abnormality of the liver Hypoglycemia Constipation Depressed nasal bridge Hyperlipidemia Distal amyotrophy Broad nasal tip Full cheeks Hypertriglyceridemia Hepatic fibrosis Peripheral axonal neuropathy Neurodevelopmental delay Encephalopathy Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Deeply set eye Peripheral neuropathy Intellectual disability, mild Muscular hypotonia Ventricular fibrillation Autophagic vacuoles Lipodystrophy Thin vermilion border EMG: myopathic abnormalities Knee flexion contracture Elbow flexion contracture Bradycardia Syncope Hyperlordosis Restrictive cardiomyopathy T-wave inversion Endocardial fibrosis Wide nasal bridge Seizures Limited extraocular movements Proximal muscle weakness in lower limbs High palate Atrial flutter Short stature Mildly reduced ejection fraction Kyphoscoliosis Ventricular escape rhythm Reduced systolic function Distal muscle weakness Generalized muscle weakness Left atrial enlargement Hypotension Myotonia Bundle branch block Right bundle branch block Hypoventilation Progressive proximal muscle weakness Sideroblastic anemia



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