Cataract, and Generalized muscle weakness

Diseases related with Cataract and Generalized muscle weakness

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


Top matches:

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Medium match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14


MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).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, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

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Other less relevant matches:

Medium match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Medium match MUSCLE-EYE-BRAIN DISEASE


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' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

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

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Peripheral neuropathy Gait disturbance Dysphagia Cognitive impairment Ragged-red muscle fibers Visual impairment Areflexia Depressivity Pain Mitochondrial myopathy Ataxia Exercise intolerance Ptosis Limb muscle weakness Hypertrophic cardiomyopathy Nystagmus Parkinsonism Skeletal muscle atrophy Muscular dystrophy Dilatation Strabismus Cerebellar hypoplasia Generalized hypotonia Global developmental delay Ventriculomegaly Facial palsy Hearing impairment Sensory neuropathy Intellectual disability Muscular hypotonia Respiratory insufficiency Proximal muscle weakness Paresthesia EMG: myopathic abnormalities Dysarthria Tremor Hyporeflexia Cerebral atrophy Dementia Dysphonia Spasticity Microcephaly Skeletal myopathy Dyspnea Anxiety Myalgia Ophthalmoplegia Gliosis External ophthalmoplegia Congenital cataract Respiratory distress

Rare Symptoms - Less than 30% cases


Optic atrophy Abnormality of movement Progressive hearing impairment Cytochrome C oxidase-negative muscle fibers Severe global developmental delay Progressive muscle weakness Abnormality of the cerebral white matter Migraine Vertigo Multiple mitochondrial DNA deletions Progressive external ophthalmoplegia Scapular winging Pes cavus Respiratory insufficiency due to muscle weakness Headache Acidosis Ventricular hypertrophy Subsarcolemmal accumulations of abnormally shaped mitochondria Myopia Arrhythmia Meningocele Muscle fiber atrophy Stroke Mental deterioration Glaucoma Congestive heart failure Dysgraphia Neurological speech impairment Hypoplasia of the brainstem Lactic acidosis Sensorineural hearing impairment Distal muscle weakness Dilated cardiomyopathy Pallor Lower limb muscle weakness Generalized amyotrophy Muscle stiffness EMG abnormality Progressive proximal muscle weakness Cerebral cortical atrophy Neuronal loss in central nervous system Myoclonus Muscle cramps Neurodegeneration Flexion contracture Feeding difficulties Nausea and vomiting Intellectual disability, severe Hypogonadism Hypertonia Bulbar palsy Paralysis Short stature Premature ovarian insufficiency Sensory axonal neuropathy Abnormality of the thyroid gland Rigidity Ophthalmoparesis Mildly elevated creatine phosphokinase Memory impairment Respiratory failure Congenital muscular dystrophy Bradykinesia Increased variability in muscle fiber diameter Increased serum lactate Hypoglycosylation of alpha-dystroglycan Emotional lability Cardiorespiratory arrest Abnormal electroretinogram Abnormality of mitochondrial metabolism Brain atrophy Recurrent upper respiratory tract infections Right ventricular hypertrophy 3-Methylglutaconic aciduria Hypothyroidism Organic aciduria Diabetes mellitus Eosinophilia Square-wave jerks Abnormal myelination Decreased activity of mitochondrial respiratory chain Fatty replacement of skeletal muscle Inferior vermis hypoplasia Infantile axial hypotonia Exercise-induced lactic acidemia Easy fatigability Resting tremor Tachypnea Bradycardia Insomnia Coronary artery atherosclerosis Bipolar affective disorder Ventricular fibrillation Abnormal muscle fiber protein expression Apathy Limb-girdle muscle weakness Sensory ataxia Bilateral ptosis Mutism Growth delay Failure to thrive Motor delay Corneal dystrophy Hypertension Diplopia Thrombocytopenia Left ventricular hypertrophy Status epilepticus Feeding difficulties in infancy Amenorrhea Aciduria Esotropia Pulmonary arterial hypertension Hemiparesis Cardiac arrest Osteopenia Phonic tics Depletion of mitochondrial DNA in muscle tissue Abnormality of eye movement Psychosis Chorea Abnormal bleeding Ascites Sleep disturbance Dyskinesia Lymphadenopathy Progressive choreoathetosis Abnormality of the foot Progressive distal muscular atrophy Malabsorption Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Developmental regression Abnormality of the eye Aggressive behavior Abnormality of the nervous system Elevated hepatic transaminase Progressive neurologic deterioration Involuntary movements Weight loss Tics Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Mood changes Abnormal urinary color Disinhibition Orofacial dyskinesia Acanthocytosis Vasculitis Acute hepatic failure Self-mutilation Protruding tongue Personality changes Self-injurious behavior Abnormality of vision Abnormality of urine homeostasis Hair-pulling Drooling Hepatosplenomegaly Abdominal pain Cerebellar atrophy Mask-like facies Stroke-like episode Shuffling gait Action tremor Dyschromatopsia Increased CSF protein Abnormality of the periventricular white matter Abnormal retinal morphology Caudate atrophy Steppage gait Hemianopia Postural tremor Limb ataxia Mitral regurgitation Mitral valve prolapse Distal sensory impairment Peripheral axonal neuropathy Confusion Gait ataxia Gastrointestinal dysmotility Cogwheel rigidity Recurrent respiratory infections Stooped posture Splenomegaly Dystonia Behavioral abnormality Hepatomegaly Homonymous hemianopia Sensory ataxic neuropathy Progressive ophthalmoplegia Impaired distal proprioception Optic neuritis Parkinsonism with favorable response to dopaminergic medication Impaired distal vibration sensation Subcortical dementia Abnormality of the cerebrospinal fluid Abnormal nerve conduction velocity Neuritis Weak voice Increased muscle fatiguability Positive Romberg sign Hand muscle weakness Muscle fiber necrosis Joint stiffness Restrictive heart failure Neurofibromas Abnormality of the retinal vasculature Meningioma Posterior subcapsular cataract Subcapsular cataract Axonal loss Hamartoma Multiple cafe-au-lait spots Oral-pharyngeal dysphagia Schwannoma Tinnitus Increased intracranial pressure Neoplasm of the skin Sensorimotor neuropathy Cafe-au-lait spot Subcutaneous nodule Progressive visual loss Astrocytoma Neoplasm of the central nervous system Corneal opacity Retinal hamartoma Capsular cataract Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Occasional neurofibromas Peripheral Schwannoma Bilateral vestibular Schwannoma Mononeuropathy Neuroma Lisch nodules Vestibular Schwannoma Decreased corneal sensation Spinal cord tumor Pseudoepiphyses of the metacarpals Ependymoma Epiretinal membrane Cortical cataract Papule Reduced visual acuity Hypoplasia of the corpus callosum Slurred speech Degeneration of anterior horn cells Abnormal lower motor neuron morphology Frontotemporal dementia Xerostomia Muscle fibrillation Agitation Amyotrophic lateral sclerosis Sleep apnea Pseudobulbar paralysis Fasciculations Peripheral demyelination Tetraplegia Skeletal dysplasia Hyperreflexia Gowers sign Obesity Degeneration of the lateral corticospinal tracts Functional respiratory abnormality Visual loss Torticollis Blindness Neoplasm Ileal atresia Generalized limb muscle atrophy Prolonged QT interval Myopathic facies Poor head control Decreased fetal movement Motor neuron atrophy Abnormal heart morphology Absent speech Intellectual disability, mild Fatigable weakness of swallowing muscles Fatigable weakness of bulbar muscles Fatigable weakness of respiratory muscles Laryngospasm Micrognathia Hydrocephalus Pica Myocardial infarction Akinesia Limb-girdle muscular dystrophy Atrioventricular block Ventricular tachycardia Elbow flexion contracture Palpitations Atrial fibrillation Syncope Bundle branch block Chest pain Sudden cardiac death Tachycardia Pneumonia Constipation Diarrhea Delayed speech and language development Tricuspid regurgitation Right bundle branch block Enlarged flash visual evoked potentials Restrictive cardiomyopathy Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Intestinal pseudo-obstruction Right ventricular cardiomyopathy Hyporeflexia of lower limbs Myofibrillar myopathy Atrial flutter Difficulty climbing stairs Ventricular extrasystoles Heart block Neck muscle weakness Centrally nucleated skeletal muscle fibers Rimmed vacuoles Spinal rigidity Hypokinesia Scoliosis Short nasal bridge Malar flattening Everted lower lip vermilion Holoprosencephaly Severe muscular hypotonia Opacification of the corneal stroma Pachygyria Encephalocele Intellectual disability, profound High myopia Polymicrogyria Aplasia/Hypoplasia of the corpus callosum Retinal degeneration Coloboma Neonatal hypotonia EEG abnormality Agenesis of corpus callosum Midface retrusion Microphthalmia Lissencephaly Infantile muscular hypotonia Hypoplasia of the retina Hypoplasia of the pons Uncontrolled eye movements Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Retinal dysplasia Optic nerve hypoplasia Megalocornea Retinal atrophy Congenital glaucoma Cortical dysplasia Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Abnormality of the voice Self-mutilation of tongue and lips due to involuntary movements



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