Myopia, and Proximal muscle weakness

Diseases related with Myopia and Proximal muscle weakness

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


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O


Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Medium match LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME


LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

Medium match GYRATE ATROPHY OF CHOROID AND RETINA


Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

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Other less relevant matches:

Medium match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6


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

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).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, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Proximal muscle weakness

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Proximal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Generalized hypotonia Myopathy Cataract Muscular dystrophy Limb muscle weakness Delayed speech and language development Short stature Abnormality of the periventricular white matter Pain Cognitive impairment Abnormality of the cerebral white matter Macroglossia Ataxia Skeletal muscle atrophy Fatigue Hyperlordosis Seizures Nystagmus Limb-girdle muscular dystrophy Gowers sign Skeletal muscle hypertrophy

Rare Symptoms - Less than 30% cases


Waddling gait Facial palsy Cerebellar atrophy Cerebellar hypoplasia Infantile muscular hypotonia Ventriculomegaly Flexion contracture Muscular hypotonia Right ventricular dilatation Progressive proximal muscle weakness Restrictive ventilatory defect Truncal ataxia Hepatomegaly Open mouth Ventricular hypertrophy Apraxia Tremor Cerebral cortical atrophy Hyporeflexia Dilatation Microcephaly Left ventricular systolic dysfunction Left ventricular hypertrophy Pigmentary retinopathy EMG: myopathic abnormalities Retinopathy Abnormality of the liver Respiratory insufficiency Gait disturbance Myalgia Cerebellar cyst Congenital muscular dystrophy Abnormal electroretinogram Chorea Cerebellar vermis hypoplasia Difficulty walking Retinal atrophy Generalized amyotrophy Intellectual disability, mild Abnormality of the kidney Visual loss Abnormality of the eye EEG abnormality Neurodevelopmental delay Muscle fiber atrophy Cerebral atrophy Telangiectasia Abnormality of the thyroid gland Gynecomastia Cafe-au-lait spot Exotropia Chronic diarrhea Subcutaneous nodule Multiple lipomas Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Lymphopenia Melanocytic nevus Neoplasm of the skin Melanoma Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Hypopigmented skin patches Hand polydactyly Increased intracranial pressure Cutis marmorata Abnormal cerebellum morphology Hemangioma Macule Drooling Cranial nerve paralysis Nausea and vomiting Hypoplasia of the maxilla Micrognathia Frontal bossing Downslanted palpebral fissures Macrocephaly Brachydactyly High palate Low-set ears Failure to thrive Atrial septal defect Neoplasm Hypertelorism Hearing impairment Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Hydrocephalus Diarrhea Palmoplantar keratoderma Carcinoma Polymicrogyria Joint hypermobility Cellulitis Papule Leukemia Intellectual disability, moderate Hypothyroidism Kyphosis Narrow mouth Autism Pectus excavatum Recurrent infections Headache Immunodeficiency Cystic hygroma Ovarian neoplasm Multiple cafe-au-lait spots Colorectal polyposis Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Endometrial carcinoma Cutis marmorata telangiectatica congenita Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Fibroadenoma of the breast Enlarged cerebellum Subcutaneous lipoma High myopia Cerebellar dysplasia Dilated fourth ventricle Abnormally large globe Oculomotor apraxia Amblyopia Heterotopia Retinal dystrophy Trichilemmoma Abnormality of eye movement Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Abnormality of the penis Colonic diverticula Acute myeloid leukemia Scaphocephaly Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Hydrocele testis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Alacrima Hyperthyroidism Hamartoma Meningioma Arteriovenous malformation Adenoma sebaceum Enlarged polycystic ovaries Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Cavernous hemangioma Furrowed tongue Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Intellectual disability, borderline Athetosis Recurrent ear infections Pes cavus Scarring Glomerulosclerosis Mental deterioration Hypertrophic cardiomyopathy Reduced visual acuity Hyperactivity Arrhythmia Dilated cardiomyopathy Depressivity Congestive heart failure Cardiomyopathy Respiratory distress Focal segmental glomerulosclerosis Congenital nystagmus Chronic kidney disease Distal amyotrophy Visual impairment Palpitations Ventricular tachycardia Hyperlipidemia Exercise intolerance Cardiac arrest Decreased liver function Abnormality of skin pigmentation Atrial fibrillation Distal sensory impairment Retinal detachment Psychosis Cardiomegaly Nephrotic syndrome Progressive visual loss Chest pain Hypertension Miosis Cone/cone-rod dystrophy Subcapsular cataract Retinal degeneration EMG abnormality Babinski sign Hyperammonemia Glucose intolerance Chorioretinal atrophy Posterior subcapsular cataract Lower limb muscle weakness Exercise-induced muscle fatigue Chorioretinal degeneration Hyperlysinuria Hyperkinesis Ornithinuria Hyperornithinemia Nyctalopia Intellectual disability, profound Congenital nephrotic syndrome Myopathic facies Mild myopia Limited extraocular movements Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Microcoria Lower limb hyperreflexia Abnormality of neuronal migration Pachygyria Hypoplasia of the brainstem Blindness Abnormality of metabolism/homeostasis Elbow flexion contracture Horizontal nystagmus Joint contracture of the hand Respiratory insufficiency due to muscle weakness Ventricular arrhythmia Speech apraxia Constipation Congenital cataract Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Elevated hepatic transaminase Hyperkeratosis Brachycephaly Absent speech Poor speech Dystonia Intrauterine growth retardation Dysarthria Feeding difficulties Spasticity Growth delay Carious teeth Abnormality of movement Calf muscle hypertrophy Lower limb spasticity Achalasia Esophagitis Adrenal insufficiency Impulsivity CNS hypomyelination Scapular winging Lumbar hyperlordosis Unsteady gait Generalized-onset seizure Hip dysplasia Focal-onset seizure Muscle cramps Hepatic steatosis Inability to walk Difficulty climbing stairs Ptosis Back pain Myofibrillar myopathy Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Skeletal myopathy Myocardial fibrosis Myocardial necrosis Wolff-Parkinson-White syndrome Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Ventricular preexcitation Stage 5 chronic kidney disease Generalized muscle weakness Renal insufficiency Hip dislocation Neonatal hypotonia Micropenis Respiratory failure Edema Abnormal heart morphology Areflexia Macular hypopigmentation Proteinuria Intellectual disability, severe Hypoplasia of the corpus callosum Cryptorchidism Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Suicidal ideation Retinal thinning



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Talipes equinovarus, related diseases and genetic alterations

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