Strabismus, and Generalized muscle weakness

Diseases related with Strabismus and Generalized muscle weakness

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


Top matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Medium match CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE


Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

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Other less relevant matches:

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

Low match BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Low 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

Low 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

Low match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Low match KUFOR-RAKEB SYNDROME


Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

Low 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

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Intellectual disability, severe Nystagmus Myopathy Elevated serum creatine phosphokinase Dysphagia Cerebellar hypoplasia Dysarthria Microcephaly Ventriculomegaly Hypertonia Cerebral cortical atrophy Respiratory insufficiency Flexion contracture Esotropia Dilatation Muscular dystrophy Cataract Hearing impairment Failure to thrive Myopia Congenital muscular dystrophy Paresthesia Cognitive impairment Torticollis Hypoplasia of the corpus callosum Proximal muscle weakness Ataxia Dyspnea Respiratory failure Respiratory distress Fever

Rare Symptoms - Less than 30% cases


Hypoglycosylation of alpha-dystroglycan Short stature Fatigue Abnormal heart morphology Intellectual disability, mild Coloboma Vomiting Difficulty walking Agenesis of corpus callosum Hyporeflexia Protruding ear Neonatal hypotonia Osteopenia Peripheral neuropathy Mitochondrial myopathy Chorea Neurodegeneration Lactic acidosis Hypertrophic cardiomyopathy Acidosis Dementia Babinski sign Headache Dystonia Cardiomyopathy Tremor Meningocele Muscle cramps Hypoplasia of the brainstem Congenital cataract Pallor Glaucoma Myoclonus Gait disturbance Optic atrophy Visual impairment Muscular hypotonia Abnormality of the cerebral white matter Mental deterioration Motor delay Retinopathy Pigmentary retinopathy Rigidity Paralysis Hip dislocation Poor suck Decreased fetal movement Ophthalmoplegia Psychosis Polyhydramnios Feeding difficulties Easy fatigability Respiratory tract infection Ptosis Apnea Micrognathia Scoliosis Constriction of peripheral visual field Oral-pharyngeal dysphagia Asymmetric septal hypertrophy Infantile spasms Hyperventilation Hyperkinesis Progressive external ophthalmoplegia External ophthalmoplegia Heart block Progressive gait ataxia Sensory axonal neuropathy Long toe Breathing dysregulation Aggressive behavior Paraplegia Abnormality of the foot Abnormality of eye movement Lethargy Spastic paraplegia Abnormal pyramidal sign Abnormality of the eye Cerebral atrophy Involuntary movements Hyperreflexia Corticospinal tract atrophy Abnormal visual field test Abnormal mitochondria in muscle tissue Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Sensory neuropathy Optic disc pallor Decreased light- and dark-adapted electroretinogram amplitude Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Buphthalmos Pain Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Diplopia Megalocornea Retinal atrophy Enlarged flash visual evoked potentials Hepatitis Overgrowth Gait ataxia Distal sensory impairment Nyctalopia Irritability Developmental regression Anxiety Autoimmunity Arthrogryposis multiplex congenita Cyanosis Rod-cone dystrophy Arrhythmia Visual loss Encephalopathy Hemolytic anemia Tapered finger Blindness Confusion Parkinsonism Dyskinesia Feeding difficulties in infancy Exercise intolerance Cardiac arrest Hemiparesis Pulmonary arterial hypertension Aciduria Increased serum lactate Stroke Thrombocytopenia Tachypnea Congestive heart failure Hypertension Growth delay Lingual dystonia Eyelid apraxia Hyperactive patellar reflex Upgaze palsy Corneal dystrophy Ragged-red muscle fibers Cerebellar cortical atrophy 3-Methylglutaconic aciduria Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination Skeletal myopathy Eosinophilia Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Difficulty in tongue movements Abnormality of higher mental function Postural instability Anosmia Lower limb hyperreflexia Hypokinesia Bowel incontinence Global brain atrophy Mask-like facies Akinesia Apathy Paraparesis Blepharospasm Hallucinations Intention tremor Abnormality of extrapyramidal motor function Bradykinesia Urinary incontinence Brain atrophy Cortical dysplasia Pulmonary embolism Abnormality of finger Stooped posture Vacuolated lymphocytes Leg muscle stiffness Psychotic episodes Oculogyric crisis Hyperreflexia in upper limbs Vertical supranuclear gaze palsy Anarthria Pseudobulbar paralysis Cogwheel rigidity Slow saccadic eye movements Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Hyposmia Supranuclear gaze palsy Short attention span Diffuse cerebral atrophy Visual hallucinations Hypomimic face Congenital glaucoma Abnormality of the voice Hemiplegia/hemiparesis Myopathic facies Abnormal facial shape Sensorineural hearing impairment Hyperacusis Ileal atresia Generalized limb muscle atrophy Decreased miniature endplate potentials Prolonged QT interval Sudden episodic apnea Abnormality of the thymus Poor head control Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Absent speech Muscle specific kinase antibody positivity Single fiber EMG abnormality Pure red cell aplasia Diarrhea Happy demeanor Triangular face Polyuria Hypercalcemia Hypercalciuria Hypokalemia Nephrocalcinosis Dehydration Premature birth Type 2 muscle fiber atrophy Renal insufficiency Stage 5 chronic kidney disease Small for gestational age EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Gastroesophageal reflux Weight loss Prominent forehead Constipation Short neck Impaired social interactions Hyperparathyroidism Increased variability in muscle fiber diameter Knee flexion contracture Abnormal palate morphology EMG: myopathic abnormalities Talipes equinovarus Skeletal muscle atrophy Delayed speech and language development Adducted thumb Generalized amyotrophy Frequent falls Spinal rigidity Slender finger Hyperextensibility at wrists Increased laxity of fingers Increased endomysial connective tissue Abnormality of muscle fibers Diaphragmatic weakness Elbow flexion contracture Recurrent respiratory infections Poor coordination Inability to walk Poor eye contact Molar tooth sign on MRI Limb ataxia Stereotypy Broad-based gait Progressive neurologic deterioration Dandy-Walker malformation Bulbous nose Hyperactivity Anal atresia Talipes Poor speech Hypermetropia Attention deficit hyperactivity disorder Kyphosis Abnormality of the nervous system Diabetes insipidus Hyperaldosteronism Aspiration Rheumatoid arthritis Neurological speech impairment EEG abnormality Systemic lupus erythematosus Midface retrusion Microphthalmia Malar flattening Hydrocephalus Ophthalmoparesis Respiratory insufficiency due to muscle weakness Bulbar palsy Glycosuria Left ventricular systolic dysfunction Abnormality of the periventricular white matter Calf muscle hypertrophy Skeletal muscle hypertrophy Left ventricular hypertrophy Severe global developmental delay Abnormality of movement Cerebellar vermis hypoplasia Severe muscular hypotonia Aplasia/Hypoplasia of the cerebellum Pes valgus Optic nerve hypoplasia Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Opacification of the corneal stroma Retinal degeneration EMG abnormality Pachygyria Encephalocele Intellectual disability, profound High myopia Everted lower lip vermilion Polymicrogyria Open mouth Ventricular hypertrophy Hypomagnesemia Nephrogenic diabetes insipidus Hyperactive renin-angiotensin system Renal potassium wasting Increased urinary potassium Hypochloremia Hyposthenuria Hypokalemic alkalosis Hypokalemic metabolic alkalosis Parathyroid hyperplasia Hyperchloriduria Increased circulating renin level Metabolic alkalosis Parathyroid adenoma Tetany Chondrocalcinosis Alkalosis Renal salt wasting Fetal polyuria Increased serum prostaglandin E2 Abnormality of the immune system Primary adrenal insufficiency Macroglossia Weak cry Hyperthyroidism Hyperlordosis Facial palsy Fatigable weakness Micropenis Areflexia Hyperprostaglandinuria Hashimoto thyroiditis Acrocyanosis Raynaud phenomenon Myositis Cryptorchidism Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Depletion of mitochondrial DNA in muscle tissue



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