Epicanthus, and Generalized muscle weakness

Diseases related with Epicanthus and Generalized muscle weakness

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

Top matches:

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Other less relevant matches:

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

High match CODAS SYNDROME

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Top 5 symptoms//phenotypes associated to Epicanthus and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Generalized muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Neonatal hypotonia Global developmental delay Cryptorchidism Ptosis Arthrogryposis multiplex congenita Myopathy Abnormal facial shape Hypertelorism Decreased fetal movement Myopathic facies Kyphosis Muscular hypotonia Talipes Hyporeflexia Talipes equinovarus Downslanted palpebral fissures Microcephaly Edema Respiratory distress Areflexia Facial palsy Long face Intellectual disability Gait disturbance Cleft palate Proximal muscle weakness Skeletal muscle atrophy Kyphoscoliosis Ventriculomegaly Seizures Pectus excavatum Cerebral atrophy Inability to walk Respiratory tract infection Polyhydramnios Adducted thumb Spasticity Nystagmus Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Multiple joint contractures Narrow forehead Abnormality of the pinna Dysarthria Frequent falls Gowers sign Congenital contracture Tented upper lip vermilion Open mouth Hypoplasia of the musculature CNS hypomyelination Falls Protruding ear Abnormality of the foot Apnea Conductive hearing impairment Telecanthus Drooling Long philtrum Hyperextensible skin Joint dislocation Single transverse palmar crease Micropenis Narrow face Muscular dystrophy Dental crowding Feeding difficulties in infancy Blue sclerae Hydrops fetalis Mitral valve prolapse Pterygium Akinesia Bruising susceptibility Hernia Joint hypermobility Arachnodactyly Joint hyperflexibility Dolichocephaly Cystic hygroma Hyperlordosis Joint laxity Pneumonia Pes planus Fetal akinesia sequence Inguinal hernia Type 1 muscle fiber predominance Nemaline bodies Brachycephaly Hyperreflexia Poor head control Prominent forehead Weak cry Tetraplegia Babinski sign Spastic tetraplegia Respiratory failure Blindness Ataxia Anteverted nares Recurrent respiratory infections Fever Hypertension Short neck Hearing impairment Abnormality of the skeletal system Short stature Midface retrusion Micrognathia Growth delay Pain Interphalangeal joint contracture of finger Abnormality of the nervous system Macrotia Hypothyroidism Type 1 muscle fiber atrophy Muscle stiffness Internally nucleated skeletal muscle fibers Proptosis Type I diabetes mellitus Bilateral single transverse palmar creases Clonus Cerebral calcification Irritability Joint stiffness Camptodactyly of finger Severe global developmental delay Spastic paraplegia Leukodystrophy Absent speech Abnormality of movement Paraplegia Urinary incontinence Increased serum lactate Involuntary movements Choreoathetosis Upslanted palpebral fissure Facial hypotonia Malar flattening Wide nasal bridge Easy fatigability Narrow palpebral fissure Sternocleidomastoid amyotrophy Dental malocclusion Abnormal muscle morphology Mandibular prognathia Absent epiphyses Prominent occiput Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Hemiatrophy Poor suck Fatigable weakness Dystonia Delayed gross motor development Intellectual disability, severe Muscle fiber hypertrophy Rectus femoris muscle atrophy Athetosis Fragile skin Bilateral talipes equinovarus Patent foramen ovale Mitral regurgitation Frog-leg posture Scarring Camptodactyly Myalgia Arthralgia Narrow mouth Tibialis atrophy Frontal bossing Intellectual disability, progressive Hypoplasia of the zygomatic bone Hallux valgus Difficulty running Mask-like facies Bilateral cryptorchidism Abnormality of the rib cage Slender build Increased variability in muscle fiber diameter Centrally nucleated skeletal muscle fibers Midline defect of the nose Neck flexor weakness Distal arthrogryposis EMG: neuropathic changes Severe postnatal growth retardation Bell-shaped thorax Facial diplegia Shoulder girdle muscle weakness Congenital muscular dystrophy Hand clenching Exercise-induced myalgia Webbed neck Prominent nasal bridge Clinodactyly Ophthalmoplegia Late-onset distal muscle weakness Pulmonary hypoplasia Mitochondrial depletion Aciduria Scrotal hypoplasia Cyanosis Bradycardia External ophthalmoplegia Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Spinal rigidity Increased connective tissue Aphasia Rotary nystagmus Dysphagia Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Delayed CNS myelination Minicore myopathy Abnormality of the neck Macroorchidism Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Generalized amyotrophy Bowel incontinence Hypospadias Abnormality of the eye Bulbar palsy Muscle fiber necrosis Axial muscle weakness 3-Methylglutaconic aciduria Pericardial effusion Mildly elevated creatine phosphokinase Increased nuchal translucency Rocker bottom foot EMG: myopathic abnormalities Distal muscle weakness Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Generalized limb muscle atrophy Large fontanelles Functional respiratory abnormality Waddling gait Limb muscle weakness Lumbar scoliosis Short nose Vocal cord paresis Abnormality of metabolism/homeostasis Retinal detachment Unsteady gait Pectus carinatum Retinopathy Osteopenia Glaucoma Osteoporosis Dilatation Microcornea Congestive heart failure Myopia Visual impairment Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Malignant hyperthermia Ankle contracture Polyneuropathy Abnormal bleeding Downturned corners of mouth Joint contracture of the hand Aortic regurgitation Torticollis Spina bifida occulta Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Insulin resistance Sepsis Tall stature Thin skin High myopia Oligohydramnios Overgrowth Esotropia Gastrointestinal hemorrhage Short palpebral fissure Blepharophimosis Intracranial hemorrhage Optic atrophy Platyspondyly Abnormality of the liver Developmental regression Rigidity Hepatosplenomegaly Posteriorly rotated ears Renal insufficiency Fractures of the long bones Generalized myoclonic seizures Oral-pharyngeal dysphagia Fasciculations Abnormality of eye movement Hypertonia Cerebellar atrophy Intrauterine growth retardation Failure to thrive Neurodegeneration Clumsiness Cognitive impairment Psychomotor deterioration Decreased beta-galactosidase activity Sea-blue histiocytosis Lumbar kyphosis Progressive psychomotor deterioration Decerebrate rigidity Vacuolated lymphocytes Loss of ability to walk Visceromegaly Abnormality of the face Abnormality of the spleen Developmental stagnation Loss of speech Brisk reflexes Spastic paraparesis Coxa valga Paraparesis Corneal dystrophy Aortic aneurysm Pes valgus Omphalocele Short long bone Short chin Abnormality of dental enamel Congenital hip dislocation Short phalanx of finger Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormal form of the vertebral bodies Bilateral ptosis Microdontia Hip dysplasia Short metacarpal Delayed eruption of teeth Flat face Anal atresia Genu valgum Abnormality of pelvic girdle bone morphology Epiphyseal dysplasia Hypermetropia Hypoplasia of the odontoid process Delayed ossification of carpal bones Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Prominent metopic ridge Overfolded helix Short humerus Metaphyseal dysplasia Atrioventricular canal defect Hydroureter Spondyloepiphyseal dysplasia Abnormality of dental morphology Proximal placement of thumb Congenital cataract Hip dislocation Heart murmur Aortic dissection Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Atypical scarring of skin Palmoplantar cutis laxa Soft skin Aortic root aneurysm Keratoconus Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Arterial dissection Premature rupture of membranes Broad forehead Delayed speech and language development Short philtrum Intellectual disability, moderate Delayed skeletal maturation Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Brachydactyly Cataract Wrist drop Sensorineural hearing impairment Strabismus Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Type 1 and type 2 muscle fiber minicore regions


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Abnormality of the foot, related diseases and genetic alterations Congestive heart failure and Abdominal distention, related diseases and genetic alterations Optic atrophy and Erythema, related diseases and genetic alterations