Muscular hypotonia, and Glaucoma

Diseases related with Muscular hypotonia and Glaucoma

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

Top matches:

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Is also known as copoa|sclerocornea with other ocular anomalies|corneal opacification with other ocular anomalies|ccmco

Related symptoms:

  • Generalized hypotonia
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Corneal opacity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Other less relevant matches:

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It 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 Roscioli et al., 2012).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, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Glaucoma

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Cerebellar hypoplasia Scoliosis Microcephaly Congenital muscular dystrophy Lissencephaly Muscular dystrophy Elevated serum creatine phosphokinase Hydrocephalus Muscle weakness Seizures Buphthalmos Agyria Macrocephaly Cerebellar vermis hypoplasia Neonatal hypotonia Polymicrogyria Abnormality of the cerebral white matter Flexion contracture Intellectual disability, severe Encephalocele Hypoplasia of the brainstem Intellectual disability, profound Visual impairment Areflexia Edema Type II lissencephaly Pachygyria Myopia

Rare Symptoms - Less than 30% cases

Cerebellar cyst Retinal dystrophy Reduced visual acuity Heterotopia Congenital glaucoma Hypoplasia of the iris Nystagmus Spasticity High myopia Corpus callosum atrophy Optic atrophy Retinal detachment Poor head control Corneal opacity Hypermetropia Short stature Hypertonia Dilatation Peters anomaly Myopathy Respiratory insufficiency Leukodystrophy Severe muscular hypotonia Hypoplasia of the corpus callosum Myoclonus Delayed puberty Acidosis Encephalopathy Stroke Pallor Anterior synechiae of the anterior chamber Abnormality of metabolism/homeostasis Hypoplasia of the pons Congenital cataract Cleft upper lip Macroglossia Aplasia/Hypoplasia of the corpus callosum Congenital contracture Skeletal muscle hypertrophy Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Cerebellar dysplasia Long philtrum Persistent pupillary membrane Moderate myopia Failure to thrive Micrognathia Ptosis Anemia High palate Kyphosis Short nose Increased serum lactate Lactic acidosis Distichiasis Progressive muscle weakness Sloping forehead Strabismus Hyperreflexia Wide nasal bridge Intrauterine growth retardation Anteverted nares Cerebral atrophy Cerebral cortical atrophy Protruding ear Retinopathy Abnormality of skin pigmentation Pigmentary retinopathy Optic disc pallor Retinal dysplasia Abnormality of retinal pigmentation Lymphedema Pointed chin Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Retinal fold Remnants of the hyaloid vascular system Gonadal dysgenesis EMG abnormality Chronic lactic acidosis Exercise intolerance Ragged-red muscle fibers Microcytic anemia Increased serum ferritin Mitochondrial myopathy Stroke-like episode Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Low-set ears Weak cry Frontal bossing Retrognathia Deeply set eye Facial palsy Microtia Dandy-Walker malformation Decreased fetal movement Large fontanelles Optic nerve hypoplasia Adducted thumb Partial agenesis of the corpus callosum Cleft lip Coloboma Cleft palate Cognitive impairment Dry skin Inflammatory abnormality of the skin Mitral regurgitation Aortic valve stenosis Atopic dermatitis Pulmonary edema Calcification of the aorta Corneal neovascularization Peripheral neuropathy Hyperkeratosis Dysarthria Ectopia pupillae Cerebellar atrophy Hyporeflexia Babinski sign Difficulty walking Intellectual disability, moderate Abnormal pyramidal sign Spastic paraplegia Arthritis Abnormality of the dentition Astigmatism Nephrotic syndrome Flat cornea Anterior segment developmental abnormality Blindness Renal insufficiency Visual loss Proteinuria Abnormality of the nervous system Stage 5 chronic kidney disease Neurodevelopmental delay Abnormality of the skeletal system Severe vision loss Hypoproteinemia Diffuse mesangial sclerosis Congenital nephrotic syndrome Lenticonus Microcoria Posterior lenticonus Hypoplasia of the ciliary body Abnormal facial shape Paraplegia Dysmetria Growth delay Retinal degeneration Microcornea Sensorineural hearing impairment Feeding difficulties Agenesis of corpus callosum Polyhydramnios Polycoria Severe global developmental delay Poor speech Bilateral sensorineural hearing impairment Hearing impairment Progressive microcephaly Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation CNS hypomyelination Occipital encephalocele Hypoventilation Abnormally large globe Retinal coloboma Cortical cataract Abnormality of the outer ear Ectopia lentis Neurodegeneration Areflexia of lower limbs Abnormal cerebellum morphology Spastic gait Clonus Paraparesis Spastic paraparesis Impaired vibratory sensation Distal lower limb amyotrophy Spastic dysarthria Titubation Holoprosencephaly Hyporeflexia of lower limbs Impaired distal vibration sensation Temporal optic disc pallor Sclerocornea Absent speech Increased intraocular pressure Respiratory failure Cerebral calcification Posterior embryotoxon Chorioretinal dysplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Retinopathy, related diseases and genetic alterations Lymphoma and Lymphopenia, related diseases and genetic alterations Tremor and Photophobia, related diseases and genetic alterations Immunodeficiency and Dental crowding, related diseases and genetic alterations Cognitive impairment and Paresthesia, related diseases and genetic alterations Ataxia and Intestinal malrotation, related diseases and genetic alterations