Ventricular septal defect, and Proximal muscle weakness

Diseases related with Ventricular septal defect and Proximal muscle weakness

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Proximal muscle weakness that can help you solving undiagnosed cases.


Top matches:

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1


Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4


EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

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Other less relevant matches:

Low 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

Low match MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY


MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome|myh7-related late-onset spmd

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Gait disturbance
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

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 SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS


Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Low match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F


Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F Is also known as delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|lgmd2f|muscular dystrophy, limb-girdle, type 2f

Related symptoms:

  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

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

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Proximal muscle weakness

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Ventricular hypertrophy Proximal amyotrophy Myopathy Myalgia Abnormal cardiac septum morphology Falls Motor delay Seizures Gowers sign Respiratory insufficiency Facial palsy Congestive heart failure Cardiomyopathy Generalized hypotonia Difficulty walking Scapular winging

Rare Symptoms - Less than 30% cases


Attention deficit hyperactivity disorder Scoliosis Hernia Abnormal left ventricle morphology Hyperactivity Flexion contracture Stroke Skeletal muscle atrophy Congenital muscular dystrophy Pulmonic stenosis Progressive proximal muscle weakness Hypertrophic cardiomyopathy Pulmonary arterial hypertension Coarctation of aorta Atrial septal defect Muscle cramps Gait disturbance Shoulder girdle muscle weakness Decreased fetal movement Umbilical hernia Abnormal heart morphology Arrhythmia Limb-girdle muscular dystrophy Proximal lower limb amyotrophy Infantile muscular hypotonia Hypertension Frequent falls Limb muscle weakness Ptosis Left ventricular hypertrophy Abnormality of the foot musculature Limitation of movement at ankles Chronic obstructive pulmonary disease Distal lower limb muscle weakness Decreased patellar reflex Beevor's sign Muscular hypotonia Limited neck flexion Triceps weakness Decreased Achilles reflex Left ventricular failure Limited wrist extension Upper limb amyotrophy Tibialis muscle weakness Upper limb muscle weakness Muscle fiber splitting Hand muscle weakness Limited shoulder movement Enlargement of the ankles Shoulder girdle muscle atrophy Limited hip movement Increased endomysial connective tissue Left anterior fascicular block Shock Behavioral abnormality Proximal upper limb amyotrophy Pulmonary artery hypoplasia ST segment depression Ebstein anomaly of the tricuspid valve Toe walking Calf muscle hypertrophy Limb-girdle muscle weakness Shuffling gait Generalized limb muscle atrophy Absent muscle fiber delta sarcoglycan Aortic arch aneurysm Strabismus Cataract Myopia Cerebral atrophy Chorea Truncal ataxia Hyperkinesis Restrictive ventilatory defect Right ventricular dilatation Left ventricular noncompaction cardiomyopathy Cardiogenic shock Lower limb muscle weakness Myopathic facies Exercise intolerance Delayed gross motor development Reduced ejection fraction Myocardial fibrosis Pelvic girdle muscle weakness Abnormal muscle fiber dystrophin expression Ventriculomegaly Dilatation Atrial fibrillation Bicuspid aortic valve Reduced systolic function Ventricular arrhythmia Tricuspid regurgitation Coronary artery atherosclerosis Pulmonary embolism Pulmonary artery stenosis Left bundle branch block Left ventricular noncompaction T-wave inversion First degree atrioventricular block Centrally nucleated skeletal muscle fibers Waddling gait Increased variability in muscle fiber diameter Small nail Encephalopathy Inguinal hernia Severe global developmental delay Abnormality of the cerebral white matter Hepatic failure Ascites Hip dysplasia Hyperammonemia Splenomegaly Ischemic stroke Patent foramen ovale Portal hypertension Cutis marmorata Abnormality of the coagulation cascade Spastic diplegia Aplasia cutis congenita Syndactyly Brachydactyly Right ventricular hypertrophy Paralysis Abnormality of the skeletal system Respiratory distress Areflexia Recurrent respiratory infections Respiratory failure Joint laxity Muscular hypotonia of the trunk Tetraparesis Short stature Recurrent pneumonia Spinal muscular atrophy Axonal degeneration EMG: neuropathic changes Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Oligodactyly Dystrophic toenail Steppage gait Mitochondrial depletion Hyporeflexia Neonatal hypotonia Poor speech Ichthyosis Mitral valve prolapse Mildly elevated creatine phosphokinase Difficulty standing Pes cavus Delayed speech and language development Pes planus Hyperlordosis Abnormality of the cardiovascular system Foot dorsiflexor weakness Reduced tendon reflexes EMG: myopathic abnormalities Heart murmur Intellectual disability, mild Microcephaly Calcinosis Prominent scalp veins Prominent superficial veins Esophageal varix Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Portal vein thrombosis Cutis marmorata telangiectatica congenita Left ventricular septal hypertrophy Chronic hepatic failure Calcinosis cutis Right atrial enlargement Talipes equinovarus Arthrogryposis multiplex congenita Bilateral talipes equinovarus Neck muscle weakness Limb joint contracture Exercise-induced muscle fatigue



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