Myopathy, and Astigmatism

Diseases related with Myopathy and Astigmatism

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

Top matches:

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Other less relevant matches:

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).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, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BEHR SYNDROME; BEHRS

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

Top 5 symptoms//phenotypes associated to Myopathy and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Ptosis Strabismus Low-set ears Gait disturbance Prominent forehead Ventriculomegaly Depressed nasal bridge Elevated serum creatine phosphokinase Cryptorchidism Short stature Seizures Microphthalmia Cataract Microcephaly Flexion contracture Esotropia Optic atrophy Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Bilateral ptosis Cerebellar hypoplasia Cerebellar cyst Deeply set eye High forehead Nystagmus Edema Babinski sign Abnormal bleeding Hydrocephalus Achilles tendon contracture Gait ataxia Microcornea Posteriorly rotated ears Respiratory distress Cerebellar vermis hypoplasia Cognitive impairment Pectus excavatum Scoliosis Amblyopia Failure to thrive Inguinal hernia Abnormal facial shape Ophthalmoplegia Joint laxity Bruising susceptibility Frontal bossing Pectus carinatum Hypoplasia of the corpus callosum Joint contracture of the hand Long philtrum Falls Growth delay Joint hypermobility Congenital muscular dystrophy Oligohydramnios Muscle weakness Peripheral neuropathy Cardiomyopathy Dilatation Glaucoma Low-set, posteriorly rotated ears Abnormality of the cerebral white matter Limb muscle weakness Lower limb muscle weakness Torticollis Muscular dystrophy Epicanthus Hypertelorism High myopia Intellectual disability, profound Ataxia Macrocephaly Postnatal growth retardation Corneal opacity Micrognathia Paralysis Dementia Pes cavus Dysphagia Abnormality of the subarachnoid space Tremor Dysarthria Hyperreflexia Reduced factor X activity Decreased light- and dark-adapted electroretinogram amplitude Sensorineural hearing impairment Myopathic facies Spasticity Lower limb hyperreflexia Abnormality of the periventricular white matter Reduced prothrombin activity Hearing impairment Mild myopia Infantile muscular hypotonia Cerebral atrophy Respiratory failure Chorea Holoprosencephaly Lissencephaly Leukodystrophy Cerebral calcification Retinal dystrophy Polymicrogyria Absent speech Myalgia Truncal ataxia Intellectual disability, severe Exercise-induced muscle fatigue Right ventricular dilatation Progressive proximal muscle weakness Restrictive ventilatory defect Limb-girdle muscular dystrophy Poor head control Difficulty walking Abnormality of neuronal migration Pachygyria Skeletal muscle hypertrophy Hypoplasia of the brainstem Gowers sign Abnormal electroretinogram EMG: myopathic abnormalities Elbow flexion contracture Horizontal nystagmus Open mouth Buphthalmos Hyperkinesis Waddling gait Macroglossia Facial palsy Proximal muscle weakness Dysmetria Agyria Abnormal pyramidal sign Talipes equinovarus Abnormal cerebellum morphology Spina bifida occulta Atrophic scars Disproportionate tall stature Heart murmur Aortic aneurysm Intracranial hemorrhage Hyperextensible skin Corneal dystrophy Aortic regurgitation Joint dislocation Slender finger Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Insulin resistance Tall stature Dental crowding Thin skin Blue sclerae Abnormality of the hip bone Keratoconus Mitral valve prolapse Arterial dissection Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Dural ectasia Aortic root aneurysm Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Aortic dissection Atypical scarring of skin Soft skin Decreased fetal movement Overgrowth Gliosis Axonal degeneration Visual impairment Adductor longus contractures Hamstring contractures 3-Methylglutaconic aciduria Upper motor neuron dysfunction Congenital nystagmus Rimmed vacuoles Progressive spasticity Abnormality of mitochondrial metabolism Respiratory insufficiency Dysdiadochokinesis Ragged-red muscle fibers Sensorimotor neuropathy Spastic gait Frequent falls Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Progressive visual loss Aciduria Reduced factor XII activity Blindness Gastrointestinal hemorrhage Dolichocephaly Sepsis Generalized muscle weakness Single transverse palmar crease Polyneuropathy Retinal detachment Unsteady gait Arachnodactyly Talipes Joint hyperflexibility Retinopathy Congestive heart failure Hyperlordosis Neonatal hypotonia Pes planus Osteopenia Kyphoscoliosis Osteoporosis Hernia Abnormality of metabolism/homeostasis Kyphosis Juvenile myelomonocytic leukemia Lymphedema Hypoplasia of olfactory tract Short columella Accessory spleen Intestinal atresia Peters anomaly Sex reversal Ectopia pupillae Duodenal atresia Sclerocornea Preaxial polydactyly Bilateral renal hypoplasia Optic nerve hypoplasia Short palpebral fissure Renal hypoplasia Prominent nose Intestinal malrotation Iris coloboma Malabsorption Prominent nasal bridge Retinal vascular tortuosity Hypoplastic iris stroma Wide mouth Muscular hypotonia of the trunk Delayed myelination Bifid uvula Short foot Small hand Short palm Thin vermilion border Small for gestational age Thin upper lip vermilion Jejunal atresia Micropenis Hypogonadism Severe short stature Recurrent respiratory infections Delayed skeletal maturation Abnormality of the dentition Intrauterine growth retardation Corneal astigmatism Coloboma Abnormality of the pinna Convex nasal ridge Congenital fibrosis of extraocular muscles Hepatomegaly Secondary esotropia Sensory exotropia Superior rectus atrophy Levator palpebrae superioris atrophy Compensatory chin elevation Restrictive external ophthalmoplegia Congenital ptosis Encephalopathy Abnormal cranial nerve morphology Progressive gait ataxia Diplopia Exotropia Pigmentary retinopathy Progressive cerebellar ataxia Blepharophimosis Depressivity Fatigue Constipation Hydronephrosis Exercise intolerance Polydactyly Agenesis of corpus callosum Wide nasal bridge Cleft palate Congenital nephrotic syndrome Progressive external ophthalmoplegia External ophthalmoplegia Left ventricular hypertrophy Hypothyroidism Ventricular hypertrophy Nephrotic syndrome Cardiomegaly Increased serum lactate Metabolic acidosis Abnormality of the liver Elevated hepatic transaminase Acidosis Growth hormone deficiency Hypoplasia of penis Reduced factor IX activity Aortic valve stenosis Failure to thrive in infancy Cholelithiasis Poor suck Deep philtrum Bicuspid aortic valve Vasculitis Bilateral single transverse palmar creases Hydrops fetalis Abnormality of the thorax Cafe-au-lait spot Hyperpigmentation of the skin Mitral regurgitation Fine hair Low posterior hairline Epistaxis Cyanosis Hip dysplasia Pleural effusion Cubitus valgus Webbed neck Hypochromic microcytic anemia Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Abnormality of the spleen Overfolded helix B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Wide intermamillary distance Lymphoma Hypocalcemia Tetany Delayed speech and language development Feeding difficulties Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Downslanted palpebral fissures Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Recurrent bacterial infections Hypertension Anteverted nares Triangular face Sparse hair Ascites Highly arched eyebrow Thick vermilion border Abnormality of the foot Pulmonic stenosis Hypermetropia Leukemia Broad forehead Feeding difficulties in infancy Short neck Hepatosplenomegaly Macrotia Gastroesophageal reflux Polyhydramnios Thrombocytopenia Abnormality of cardiovascular system morphology Splenomegaly Atrial septal defect Progressive congenital scoliosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Blue sclerae, related diseases and genetic alterations Autoimmunity and Gliosis, related diseases and genetic alterations Brachydactyly and Bradycardia, related diseases and genetic alterations