Myopathy, and Pectus carinatum

Diseases related with Myopathy and Pectus carinatum

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


Top matches:

Medium match AMISH NEMALINE MYOPATHY


Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

Medium match MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic SyndromesRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (OMIM ) are caused by mutation in the CHRNA1 gene (OMIM ); CMS2A (OMIM ) and CMS2C (OMIM ) are caused by mutation in the CHRNB1 gene (OMIM ) on 17p12; CMS3A (OMIM ), CMS3B (OMIM ), and CMS3C (OMIM ) are caused by mutation in the CHRND gene (OMIM ) on 2q33; and CMS4A (OMIM ), CMS4B (OMIM ), and CMS4C (OMIM ) are caused by mutation in the CHRNE gene (OMIM ) on 17p13.CMS5 (OMIM ) is caused by mutation in the COLQ gene (OMIM ) on 3p25; CMS6 (OMIM ) is caused by mutation in the CHAT gene (OMIM ) on 10q; CMS7 (OMIM ) is caused by mutation in the SYT2 gene (OMIM ) on 1q32; CMS8 (OMIM ) is caused by mutation in the AGRN gene (OMIM ) on 1p; CMS9 (OMIM ) is caused by mutation in the MUSK gene (OMIM ) on 9q31; CMS10 (OMIM ) is caused by mutation in the DOK7 gene (OMIM ) on 4p; CMS11 (OMIM ) is caused by mutation in the RAPSN gene (OMIM ) on 11p11; CMS12 (OMIM ) is caused by mutation in the GFPT1 gene (OMIM ) on 2p14; CMS13 (OMIM ) is caused by mutation in the DPAGT1 gene (OMIM ) on 11q23; CMS14 (OMIM ) is caused by mutation in the ALG2 gene (OMIM ) on 9q22; CMS15 (OMIM ) is caused by mutation in the ALG14 gene (OMIM ) on 1p21; CMS16 (OMIM ) is caused by mutation in the SCN4A gene (OMIM ) on 17q; CMS17 (OMIM ) is caused by mutation in the LRP4 gene (OMIM ) on 11p12; CMS18 (OMIM ) is caused by mutation in the SNAP25 gene (OMIM ) on 20p11; CMS19 (OMIM ) is caused by mutation in the COL13A1 gene (OMIM ) on 10q22; CMS20 (OMIM ) is caused by mutation in the SLC5A7 gene (OMIM ) on 2q12; CMS21 (OMIM ) is caused by mutation in the SLC18A3 gene (OMIM ) on 10q11; and CMS22 (OMIM ) is caused by mutation in the PREPL gene (OMIM ) on 2p21.

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A Is also known as cms iia, formerly|myasthenic syndrome, congenital, type iia, formerly|cms2a, formerly

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

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Other less relevant matches:

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Medium match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Top 5 symptoms//phenotypes associated to Myopathy and Pectus carinatum

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Kyphoscoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopathy and Pectus carinatum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Pectus excavatum Pes planus Skeletal muscle atrophy Motor delay Low-set ears Pes cavus Muscular hypotonia Hyperlordosis Muscular dystrophy Arthrogryposis multiplex congenita Generalized muscle weakness Rigidity Decreased fetal movement Seizures Dysphagia Respiratory insufficiency Progressive muscle weakness Strabismus Abnormal facial shape Epicanthus Joint contracture of the hand Inguinal hernia Proximal muscle weakness Hyporeflexia Talipes equinovarus Decreased muscle mass Areflexia Myopathic facies Abnormality of the skeletal system Camptodactyly Long face Micrognathia Myopia Talipes Microcornea Lumbar hyperlordosis Retrognathia Cataract Short stature Hypertonia Thoracic kyphosis Dilatation Feeding difficulties Arachnodactyly Joint hypermobility Cryptorchidism EMG: myopathic abnormalities Myotonia Esotropia Abnormality of the sternum Joint laxity Microcephaly Respiratory distress Severe short stature Congestive heart failure Malar flattening

Rare Symptoms - Less than 30% cases


Short neck Hypertelorism Fever Downslanted palpebral fissures Growth delay Midface retrusion Arrhythmia Elevated serum creatine phosphokinase Hyperhidrosis Abnormal bleeding Pain Malignant hyperthermia Congenital ptosis Stroke Aortic root aneurysm Osteoporosis Overgrowth Glaucoma Dolichocephaly Retinal detachment Dural ectasia Aortic dissection Polyneuropathy Mitral valve prolapse Edema Dental crowding Tall stature Aortic regurgitation Aortic aneurysm Heart murmur Disproportionate tall stature Slender finger Hernia Deeply set eye Narrow mouth Spinal deformities Osteopenia Apnea Blepharophimosis Elbow flexion contracture Coxa valga Hypoplasia of the musculature Global developmental delay Intellectual disability, severe Peripheral neuropathy Abnormality of cardiovascular system morphology Cerebellar hypoplasia High, narrow palate Specific learning disability Congenital contracture Abnormality of the cerebellar vermis Aplasia/Hypoplasia involving the skeletal musculature Sleep apnea Failure to thrive Respiratory arrest Obstructive sleep apnea Neck muscle weakness Distal lower limb muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Centrally nucleated skeletal muscle fibers Dysarthria Dysphonia Congenital muscular dystrophy Easy fatigability Ataxia Nystagmus Nemaline bodies Muscle stiffness Shoulder flexion contracture Ophthalmoplegia Congenital hip dislocation Respiratory insufficiency due to muscle weakness Narrow face Difficulty climbing stairs Neonatal hypotonia Limb muscle weakness Hip contracture Fatigable weakness Waddling gait Polyhydramnios Gastroesophageal reflux Abnormality of metabolism/homeostasis Retinopathy Bruising susceptibility Lower limb muscle weakness Prominent forehead Joint hyperflexibility Unsteady gait Oligohydramnios Single transverse palmar crease Insulin resistance Torticollis Spina bifida occulta Joint dislocation Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Type 1 muscle fiber predominance Sepsis Thin skin Blue sclerae High myopia Ophthalmoparesis Abnormality of the rib cage Decreased hip abduction Gastrointestinal hemorrhage Blindness Abnormal aldolase level Gait disturbance Hip dislocation Hip dysplasia Decreased antibody level in blood Short metacarpal Progressive cerebellar ataxia Dyskinesia Short palm Smooth philtrum Synophrys Congenital cataract Neurological speech impairment Limb ataxia Intellectual disability, moderate Gait ataxia Cerebral cortical atrophy Hypogonadism Recurrent infections Cerebral atrophy Cerebellar atrophy Optic atrophy Brachydactyly Spasticity Hypertrichosis Short thumb Depressed nasal bridge Avascular necrosis of the capital femoral epiphysis Visual impairment Corneal dystrophy Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Mild global developmental delay Sensorimotor neuropathy Abnormality of finger Rimmed vacuoles External genital hypoplasia Cubitus valgus Short metatarsal Abnormality of the metacarpal bones Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Hypergonadotropic hypogonadism Proximal amyotrophy Keratoconus Hyperextensible skin Subarachnoid hemorrhage Low back pain Pulmonary edema Spondylolisthesis Genu recurvatum Meningocele Arachnoid cyst Hypoplasia of the iris Megalocornea Pneumothorax Dilatation of the cerebral artery Striae distensae Reduced subcutaneous adipose tissue Restrictive ventilatory defect Open bite Emphysema Large for gestational age Rocker bottom foot Homocystinuria Ascending tubular aorta aneurysm Hammertoe Cystic medial necrosis Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Microspherophakia Overbite Hypertropia Flat cornea Hypopnea Premature osteoarthritis Protrusio acetabuli Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Epiphora Ectopia lentis Intracranial hemorrhage Bladder diverticulum Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Tremor Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Generalized joint laxity Moderate myopia Hypoglycemia Atypical scarring of skin Soft skin Abnormal anatomic location of the heart Hypocalcemia Abnormality of the hip bone Atrophic scars Delayed gross motor development Wrist drop Decreased pulmonary function Redundant skin Cardiomegaly Back pain Narrow palate Spontaneous abortion Exotropia Amblyopia Decreased body weight Abnormal lung morphology Mitral regurgitation Abnormality of the cardiovascular system Arterial rupture Dental malocclusion Chest pain Peripheral axonal neuropathy Visual loss Clinodactyly Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Hearing impairment Primitive reflex Fixed facial expression Diaphragmatic eventration Myokymia Shoulder girdle muscle atrophy Hypertension Sensorineural hearing impairment Recurrent respiratory infections Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Severe lactic acidosis Distal lower limb amyotrophy Breech presentation Hyperphosphatemia Low hanging columella Difficulty walking Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Slender build Delayed skeletal maturation Hyperkalemia Full cheeks Coxa vara Open mouth Generalized hirsutism EMG abnormality Abnormal autonomic nervous system physiology Frequent falls Bowing of the long bones Decreased testicular size Recurrent fractures Facial diplegia Flat face Knee flexion contracture Platyspondyly Increased variability in muscle fiber diameter Umbilical hernia Skeletal dysplasia Proptosis Difficulty running Distal amyotrophy Abnormality of the coagulation cascade Metaphyseal widening EMG: impaired neuromuscular transmission Bulbar palsy Spinal rigidity Weak cry Central hypotonia Limb-girdle muscle weakness Motor polyneuropathy Muscle fiber atrophy Acetylcholine receptor antibody positivity Episodic respiratory distress Toe walking Frontalis muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Renal insufficiency Stridor Ventricular fibrillation Diplopia Cyanosis Deep philtrum Ventricular arrhythmia Tachypnea Shock Lymphedema Hypotension Webbed neck Muscle cramps Nasal speech Metabolic acidosis Tachycardia Lactic acidosis Microretrognathia Myalgia Acidosis Poor head control Poor suck Narrow palpebral fissure Overfolded helix Type 2 muscle fiber atrophy Renal hypoplasia Renal hypoplasia/aplasia Multicystic kidney dysplasia Situs inversus totalis Wide anterior fontanel Abnormality of the face Renal dysplasia Abnormal form of the vertebral bodies Short palpebral fissure Interphalangeal joint contracture of finger Pyloric stenosis Peripheral demyelination Dandy-Walker malformation Renal agenesis Bifid uvula Prolonged miniature endplate currents Pulmonary hypoplasia Respiratory failure Attention deficit hyperactivity disorder Abnormality of the urinary system Radioulnar synostosis Joint stiffness Colpocephaly Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Hand muscle atrophy Limb joint contracture Epispadias Central sleep apnea Abnormality of the upper urinary tract Distal arthrogryposis Decreased size of nerve terminals Restlessness Submucous cleft hard palate Absent septum pellucidum Hydroureter Dextrocardia Metatarsus adductus Mask-like facies Hypoplasia of the brainstem Camptodactyly of finger Respiratory tract infection Skeletal muscle hypertrophy Talipes valgus Falls Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Pursed lips Percussion myotonia Temperature instability Cleft palate Flexion contracture of toe Weak voice Wrist flexion contracture Sensory impairment Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm High pitched voice Narrow chest Intrauterine growth retardation Abnormality of the pinna Dyspnea Postnatal growth retardation Abnormality of the kidney Aggressive behavior Hydronephrosis Micropenis Hyperactivity Posteriorly rotated ears Agenesis of corpus callosum Hypospadias Ventricular septal defect Facial palsy Microphthalmia Long philtrum Distal muscle weakness Hydrocephalus Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Inferior oblique muscle overaction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brain atrophy, related diseases and genetic alterations Autoimmunity and Hirsutism, related diseases and genetic alterations Brachydactyly and Short distal phalanx of finger, related diseases and genetic alterations

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