Scoliosis, and Left ventricular hypertrophy

Diseases related with Scoliosis and Left ventricular hypertrophy

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


Top matches:

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

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Other less relevant matches:

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

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

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

Symptoms // Phenotype % cases
Ventricular hypertrophy Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Skeletal muscle atrophy Motor delay Ptosis Elevated serum creatine phosphokinase Generalized hypotonia Neonatal hypotonia Hypertrophic cardiomyopathy Muscular dystrophy Areflexia Difficulty climbing stairs Difficulty walking Intellectual disability Dilatation Limb-girdle muscle weakness Feeding difficulties Hyperlordosis Arrhythmia Respiratory failure Pain Gait disturbance Waddling gait Calf muscle hypertrophy Atrial fibrillation Congestive heart failure Progressive muscle weakness Generalized muscle weakness Cognitive impairment Difficulty running High palate Generalized amyotrophy Delayed speech and language development Skeletal muscle hypertrophy Gowers sign Dysphagia

Rare Symptoms - Less than 30% cases


Respiratory distress Abnormal heart morphology Centrally nucleated skeletal muscle fibers Dyspnea Congenital muscular dystrophy Spinal rigidity Pulmonic stenosis Type 1 muscle fiber predominance Global developmental delay Failure to thrive Short neck Hypoplasia of the corpus callosum Kyphosis Facial palsy Talipes equinovarus Dysarthria Ketosis Respiratory insufficiency due to muscle weakness Hypertelorism Cryptorchidism Patent ductus arteriosus Strabismus Nystagmus Atrial septal defect Axial muscle weakness Back pain Dysphonia Scapular winging Microcephaly Pes cavus Abnormality of the sternum Limb muscle weakness Dilated cardiomyopathy Pes planus EMG: myopathic abnormalities Limb-girdle muscular dystrophy Exertional dyspnea Lower limb muscle weakness Abnormal echocardiogram Cerebral cortical atrophy Elevated hepatic transaminase Kyphoscoliosis Lethargy Distal muscle weakness Myalgia Abnormal cerebellum morphology Abnormality of eye movement Abnormal pyramidal sign Aortic aneurysm Bicuspid aortic valve Aortic regurgitation Abnormality of the foot Mitral regurgitation Osteoarthritis Mitral valve prolapse Dysmetria Abnormality of movement Progressive cerebellar ataxia Unsteady gait Vertigo Reduced visual acuity Peripheral axonal neuropathy Chorea Tachycardia Falls Inability to walk Chest pain Sensory neuropathy Neurodegeneration Pallor Hyperactivity Gait ataxia Abdominal aortic aneurysm Dystonia Dural ectasia Cerebellar atrophy Fatigue Optic atrophy Peripheral neuropathy Visual impairment Depressivity Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Knee osteoarthritis Hearing impairment Ataxia Arterial tortuosity Hip osteoarthritis Disproportionate tall stature Soft skin Slender finger Sensory impairment Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Aortic dissection Visual loss Spondylolisthesis Low back pain Osteochondritis Dissecans Diabetes mellitus Babinski sign Thoracic aortic aneurysm Spasticity Visual field defect Peripheral demyelination Positive Romberg sign Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Lower limb amyotrophy Concentric hypertrophic cardiomyopathy Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Diabetic ketoacidosis Cerebellar cortical atrophy Hyposmia Abnormality of the dentate nucleus Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Decreased pyruvate carboxylase activity Upper limb amyotrophy Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Spinocerebellar tract degeneration Areflexia of lower limbs Optic disc pallor Insulin resistance Ventricular arrhythmia Reduced tendon reflexes Spastic paraparesis Paraparesis Muscle stiffness Truncal ataxia Spastic gait Incoordination Limb ataxia Lower limb spasticity Involuntary movements Clumsiness Palpitations Intention tremor Slurred speech Cachexia Myocardial fibrosis Thoracic scoliosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Heart block Abnormality of visual evoked potentials Abnormal EKG Optic neuropathy Dysdiadochokinesis Hyperactive deep tendon reflexes Migraine Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dental malocclusion Abnormal cardiac septum morphology Bruising susceptibility Limited neck flexion Lumbar hyperlordosis Easy fatigability Increased variability in muscle fiber diameter Hypokinesia Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Hypertension Rigidity Rimmed vacuoles Stiff neck Scapuloperoneal weakness Hip flexor weakness Autistic behavior Growth delay Anemia Hepatomegaly Acidosis Muscular hypotonia of the trunk Lactic acidosis Cirrhosis Metabolic acidosis Increased serum lactate Exercise intolerance Shock Tachypnea Hyperammonemia Ragged-red muscle fibers Cough Abdominal pain Skeletal myopathy Elbow flexion contracture Myotonia Bundle branch block Right bundle branch block Hypoventilation Progressive proximal muscle weakness Proximal muscle weakness in lower limbs Autophagic vacuoles Limited extraocular movements Seizures Wide nasal bridge Midface retrusion Sudden cardiac death Syncope Bradycardia Knee flexion contracture Abnormal muscle fiber lamin A/C Sick sinus syndrome Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Paroxysmal supraventricular tachycardia Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Atrial arrhythmia Ventricular tachycardia Abnormal atrioventricular conduction Pelvic girdle muscle weakness Achilles tendon contracture Ankle contracture Lipodystrophy Atrioventricular block Abnormality of the coagulation cascade Proximal tubulopathy Arachnodactyly Abnormality of the cerebral white matter Pleural effusion Curly hair Acute lymphoblastic leukemia Graves disease Chylothorax Palmoplantar cutis laxa Myopia Ventriculomegaly Intellectual disability, severe Hyporeflexia Cerebellar hypoplasia Micropenis Retinopathy Hip dislocation Macroglossia Hyperextensible skin Pigmentary retinopathy Cerebellar vermis hypoplasia Open mouth Abnormality of the periventricular white matter Left ventricular systolic dysfunction Cleft palate Abnormality of the skeletal system Headache Hernia Inguinal hernia Osteoporosis Umbilical hernia Joint laxity Camptodactyly Systemic lupus erythematosus Relative macrocephaly Sideroblastic anemia Abnormal heart valve morphology Abnormal facial shape Intellectual disability, mild Narrow mouth Retrognathia Feeding difficulties in infancy Protruding ear Ophthalmoplegia Long face Bifid uvula External ophthalmoplegia Bilateral ptosis Congenital contracture Ophthalmoparesis Long fingers Hip contracture Hyperpigmentation of the skin Edema Low posterior hairline Abnormality of the cardiovascular system Webbed neck Leukemia Polyhydramnios Hyperkeratosis Ventricular septal defect Facial diplegia Downslanted palpebral fissures Macrocephaly Epicanthus Low-set ears Short stature EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Atrophic superior cerebellar peduncle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Abnormal cardiac septum morphology, related diseases and genetic alterations Hyperreflexia and Smooth philtrum, related diseases and genetic alterations Hyperreflexia and Hypertonia, related diseases and genetic alterations Brachydactyly and Thin upper lip vermilion, related diseases and genetic alterations Nystagmus and Polyneuropathy, related diseases and genetic alterations

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