Scoliosis, and Arrhythmia

Diseases related with Scoliosis and Arrhythmia

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


Top matches:

Low match HYALINE BODY MYOPATHY


Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).

HYALINE BODY MYOPATHY Is also known as myopathy, hyaline body, autosomal dominant|myopathy with lysis of type i myofibrils

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYALINE BODY MYOPATHY

Low match LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD


Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD

Low match FAMILIAL MULTIPLE NEVI FLAMMEI


Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

FAMILIAL MULTIPLE NEVI FLAMMEI Is also known as familial multiple port-wine stains

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MULTIPLE NEVI FLAMMEI

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Low match CAPILLARY MALFORMATIONS, CONGENITAL; CMC


Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (OMIM ), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).

CAPILLARY MALFORMATIONS, CONGENITAL; CMC Is also known as port-wine stain|nevi flammei, familial multiple|capillary malformations|cmal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Dilatation


SOURCES: ORPHANET OMIM MENDELIAN

More info about CAPILLARY MALFORMATIONS, CONGENITAL; CMC

Low 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

Low match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Low match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Scoliosis and Arrhythmia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Scoliosis and Arrhythmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Elevated serum creatine phosphokinase Cardiomyopathy Proximal muscle weakness Myopathy Skeletal muscle atrophy Atrial fibrillation Intellectual disability Dysphagia Venous insufficiency

Rare Symptoms - Less than 30% cases


Bradycardia Pulmonary embolism Ventricular hypertrophy Hypermelanotic macule Intracranial hemorrhage Venous thrombosis Skin ulcer Hemiparesis Hemiplegia Nevus flammeus Dilatation Abnormal cranial nerve morphology Arteriovenous malformation Cerebral calcification Abnormality of the upper limb Congestive heart failure Hypertrophic cardiomyopathy Limb-girdle muscle weakness Neonatal hypotonia Sudden cardiac death Gait disturbance Left ventricular hypertrophy Lower limb asymmetry Glaucoma Papule Difficulty running Scapular winging Muscular dystrophy Scapuloperoneal weakness High palate Fatiguable weakness of proximal limb muscles Waddling gait Abnormality of mitochondrial metabolism Difficulty climbing stairs Edema EMG: myopathic abnormalities Generalized amyotrophy Aortic root aneurysm Wide nasal bridge Large face Malignant hyperthermia Hypohidrosis Limitation of joint mobility Full cheeks Thoracic scoliosis Midface retrusion Narrow mouth Wide nose Camptodactyly of finger Lower limb amyotrophy Hyperhidrosis Long philtrum Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Micrognathia Cognitive impairment Anteverted nares Hypertonia Kyphosis Difficulty walking Abnormal echocardiogram Hyperlordosis Rigidity Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Pain Ptosis Hypertension Short neck Respiratory failure Dysphonia Limb-girdle muscle atrophy Back pain Skeletal muscle hypertrophy Spinal rigidity Rimmed vacuoles Axial muscle weakness Stiff neck Limited neck flexion Paroxysmal supraventricular tachycardia Proximal muscle weakness in upper limbs Dilated cardiomyopathy Calf muscle hypertrophy Syncope Elbow flexion contracture Knee flexion contracture Ventricular tachycardia Atrioventricular block Lipodystrophy Limb-girdle muscular dystrophy Exertional dyspnea Proximal lower limb amyotrophy Ankle contracture Achilles tendon contracture Pelvic girdle muscle weakness Abnormal atrioventricular conduction Toe walking Atrial arrhythmia Sick sinus syndrome Increased variability in muscle fiber diameter Neuronal loss in central nervous system Gowers sign Tetraplegia Global developmental delay Spasticity Hydrocephalus Absent speech Macrotia Kyphoscoliosis Cardiomegaly Irregular hyperpigmentation Spastic tetraplegia Intellectual disability, profound Aortic valve stenosis Multiple joint contractures Macroorchidism Abnormality of the thumb Atrial flutter Abnormality of the lower limb Fatty replacement of skeletal muscle Sclerotic vertebral endplates Reduced vital capacity Distal muscle weakness Generalized muscle weakness Abnormality of the cardiovascular system Progressive muscle weakness Centrally nucleated skeletal muscle fibers Shoulder girdle muscle weakness Type 1 muscle fiber predominance Calf muscle pseudohypertrophy Organic aciduria Generalized limb muscle atrophy Scapuloperoneal amyotrophy Civatte bodies Visual impairment Peripheral neuropathy Exercise intolerance Supraventricular tachycardia Contractures of the large joints Nevus Nasal speech Facial palsy Motor deterioration Astrocytosis Decreased activity of mitochondrial respiratory chain Motor delay Pectus excavatum Pes planus Lower limb muscle weakness Neonatal respiratory distress Long face Mitral valve prolapse Lumbar hyperlordosis Frequent falls Reduced tendon reflexes Poor head control Easy fatigability Hypoplastic left heart Epileptic encephalopathy Overgrowth Cerebellar atrophy Cafe-au-lait spot Capillary hemangioma Capillary malformation Nevus flammeus of the forehead Nevus flammeus nuchae Intrauterine growth retardation Respiratory distress Encephalopathy Increased serum lactate Patent ductus arteriosus Cerebellar hypoplasia Acidosis EEG abnormality Mental deterioration Lactic acidosis Polyneuropathy Hip flexor weakness



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