Cardiomyopathy, and Neonatal hypotonia

Diseases related with Cardiomyopathy and Neonatal hypotonia

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


Top matches:

Medium match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Medium match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

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Other less relevant matches:

Medium match MYOPATHY, CENTRONUCLEAR, 5; CNM5


Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Medium 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

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 EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Medium match BETHLEM MYOPATHY 1; BTHLM1


BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Neonatal hypotonia

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Congenital muscular dystrophy Limb-girdle muscle weakness Dilated cardiomyopathy Difficulty climbing stairs Respiratory insufficiency Skeletal muscle atrophy Gowers sign Waddling gait Global developmental delay Centrally nucleated skeletal muscle fibers Feeding difficulties Ventricular hypertrophy Difficulty running Limb-girdle muscular dystrophy Calf muscle hypertrophy Left ventricular hypertrophy Respiratory distress Ankle contracture Facial palsy Generalized muscle weakness Seizures Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Autophagic vacuoles Myalgia Microcephaly Delayed speech and language development Kyphoscoliosis Atrial septal defect Arrhythmia Difficulty walking Intellectual disability Progressive muscle weakness High palate Limb-girdle muscle atrophy Elbow flexion contracture Mitochondrial depletion Knee flexion contracture Distal muscle weakness Bradycardia Lactic acidosis Hypokinesia Skeletal muscle hypertrophy Easy fatigability Increased variability in muscle fiber diameter Lumbar hyperlordosis Generalized amyotrophy Congenital muscular torticollis Abdominal pain Cough Autistic behavior Dyspnea Dilatation Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Paroxysmal supraventricular tachycardia Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Sick sinus syndrome Atrial arrhythmia Necrotizing myopathy Abnormal echocardiogram Spinal rigidity Respiratory insufficiency due to muscle weakness Type 1 muscle fiber predominance Paralysis Abnormality of the skeletal system Respiratory failure Hyperkeratosis Rigidity Protruding ear Diaphragmatic paralysis Abnormality of the mitochondrion Scarring Minicore myopathy Camptodactyly of finger Follicular hyperkeratosis Papule Abnormality of the cardiovascular system Decreased fetal movement Congenital contracture Congenital hip dislocation Failure to thrive Increased endomysial connective tissue Abnormal glycosylation Congestive heart failure Hypoglycosylation of alpha-dystroglycan Impaired visuospatial constructive cognition Torticollis Thigh hypertrophy Hypertelorism Ptosis Ventricular septal defect Abnormal cardiac septum morphology Abnormal levels of creatine kinase in blood Hip dislocation Arthrogryposis multiplex congenita Webbed neck Radioulnar synostosis Myopathic facies Cleft soft palate Abnormal atrioventricular conduction Left ventricular noncompaction Triceps weakness Hypoventilation Pelvic girdle muscle weakness Areflexia Acidosis Cerebellar hypoplasia Patent ductus arteriosus Encephalopathy Cerebellar atrophy Dysphagia Intrauterine growth retardation Axial muscle weakness Hip contracture Severe muscular hypotonia Bifid uvula Ophthalmoplegia Retrognathia Narrow mouth Micrognathia Mental deterioration Difficulty standing Mildly elevated creatine phosphokinase Infantile muscular hypotonia Frequent falls Mitral valve prolapse Falls Ichthyosis Poor speech Attention deficit hyperactivity disorder Hyperactivity Hyporeflexia Intellectual disability, mild Lethal infantile mitochondrial myopathy Pneumonia EEG abnormality Polyneuropathy Achilles tendon contracture Progressive proximal muscle weakness Exertional dyspnea Lipodystrophy Atrioventricular block EMG: myopathic abnormalities Ventricular tachycardia Atrial fibrillation Syncope Sudden cardiac death Hyperlordosis Midface retrusion Gait disturbance Wide nasal bridge Limited extraocular movements Proximal muscle weakness in lower limbs Right bundle branch block Increased serum lactate Bundle branch block Myotonia Lower limb muscle weakness Limb muscle weakness Lethargy Elevated hepatic transaminase Decreased activity of mitochondrial respiratory chain Astrocytosis Motor deterioration Hypoplastic left heart Neonatal respiratory distress Abnormality of mitochondrial metabolism Neuronal loss in central nervous system Epileptic encephalopathy Plantar flexion contractures



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