Ptosis, and Spinal muscular atrophy

Diseases related with Ptosis and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Ptosis and Spinal muscular atrophy that can help you solving undiagnosed cases.


Top matches:

Medium match MACHADO-JOSEPH DISEASE; MJD


Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM


Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

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Other less relevant matches:

Medium match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Medium match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Low match EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO


EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

Low match MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10


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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 Is also known as myasthenic myopathy, formerly|cms ib, formerly|lgm, formerly|myasthenia, limb-girdle, familial, formerly|cms1b, formerly|congenital myasthenic syndrome type ib, formerly

Related symptoms:

  • Strabismus
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10

Low match SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1


Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). Genetic Heterogeneity of Spastic AtaxiaSee also SPAX2 (OMIM ), caused by mutation in the KIF1C gene (OMIM ) on chromosome 17p13; SPAX3 (OMIM ), caused by rearrangements of the MARS2 gene (OMIM ) on chromosome 2q33; SPAX4 (OMIM ), caused by mutation in the MTPAP gene (OMIM ) on chromosome 10p11; SPAX5 (OMIM ), caused by mutation in the AFG3L2 gene (OMIM ) on chromosome 18p11; SPAX6 (OMIM ), caused by mutation in the SACS gene (OMIM ) on chromosome 13q12; SPAX7 (OMIM ); and SPAX8 (OMIM ), caused by mutation in the NKX6-2 gene (OMIM ) on chromosome 8q21.

Related symptoms:

  • Ataxia
  • Spasticity
  • Ptosis
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Low match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

Top 5 symptoms//phenotypes associated to Ptosis and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ptosis and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency due to muscle weakness Facial palsy Muscular hypotonia Limb muscle weakness Flexion contracture Cardiomyopathy Scoliosis Waddling gait Proximal amyotrophy Elevated serum creatine phosphokinase Generalized hypotonia Muscle cramps Ataxia Muscular dystrophy Hyperlordosis Kyphosis Ophthalmoplegia Gait disturbance Ophthalmoparesis Scapular winging Dysarthria Spasticity Mildly elevated creatine phosphokinase Gowers sign Strabismus Seizures

Rare Symptoms - Less than 30% cases


Lactic acidosis Respiratory failure Congestive heart failure Acidosis Irritability Toe walking Hepatic failure Aminoaciduria Pneumonia Wide nasal bridge Feeding difficulties Mitochondrial myopathy Respiratory arrest Difficulty walking Pes cavus Global developmental delay EMG: myopathic abnormalities Motor delay Tongue fasciculations Hyperreflexia Progressive muscle weakness Respiratory distress Ankle contracture Myotonia Severe muscular hypotonia Dilated cardiomyopathy Decreased fetal movement Joint stiffness Proximal spinal muscular atrophy Hypertrophic cardiomyopathy Fatigue Intellectual disability Arrhythmia Rigidity Progressive external ophthalmoplegia Dystonia Dysphagia Impaired vibratory sensation Back pain Optic atrophy External ophthalmoplegia Easy fatigability Neuronal loss in central nervous system Fatigable weakness Distal amyotrophy Abnormality of eye movement Open mouth Interphalangeal joint contracture of finger Bilateral single transverse palmar creases Hypoplasia of penis Abnormality of the fingernails Abnormality of the immune system Adducted thumb Failure to thrive in infancy Hemiplegia Congenital contracture Proximal placement of thumb Myopathic facies Narrow chest Multiple joint contractures Thickened nuchal skin fold Degeneration of anterior horn cells Microphallus Bulbar palsy Skin dimples Short stature Left ventricular hypertrophy Microcephaly Ventricular hypertrophy Wide intermamillary distance Micropenis Arthrogryposis multiplex congenita Spastic gait Neck muscle weakness Weak voice Generalized aminoaciduria Leg muscle stiffness Loss of ability to walk in early childhood Depletion of mitochondrial DNA in muscle tissue Micrognathia Spastic ataxia Cryptorchidism Cognitive impairment Short neck Supranuclear gaze palsy Slow saccadic eye movements Memory impairment Dolichocephaly Short nose Paraplegia Long philtrum Spastic paraplegia Abnormality of metabolism/homeostasis Hernia Hypospadias Hypertonia Areflexia Inguinal hernia Failure to thrive Macrotia Camptodactyly of finger Growth delay Halitosis Sensorineural hearing impairment Aciduria Coma Tetraplegia Generalized muscle weakness Thoracolumbar scoliosis Progressive encephalopathy Renal tubular acidosis Weak cry Glycosuria Increased serum lactate Exertional dyspnea Polyuria Apathy Polydipsia Pigmentary retinopathy Increased CSF lactate Spastic tetraplegia Pulmonary arterial hypertension Status epilepticus Hemiparesis Progressive neurologic deterioration Decreased liver function Congenital hip dislocation Exercise intolerance Leukoencephalopathy Tachypnea Hyperammonemia Poor head control Poor suck Renal tubular dysfunction Hyperphosphaturia Abnormal facial shape Spastic hemiparesis Anemia Hypercalciuria Muscle fibrillation Bilateral ptosis Hypertension Hepatomegaly Pectus carinatum Fever Ventriculomegaly Increased hepatocellular lipid droplets Vomiting Dilatation Encephalopathy Kyphoscoliosis Metabolic acidosis Proteinuria Muscular hypotonia of the trunk Apnea Hip dislocation Generalized tonic-clonic seizures Increased intramyocellular lipid droplets Proximal renal tubular acidosis Cytochrome C oxidase-negative muscle fibers Renal Fanconi syndrome Hepatic encephalopathy Microvesicular hepatic steatosis Thoracolumbar kyphosis Hepatic steatosis Periventricular leukomalacia Decreased activity of mitochondrial respiratory chain Left anterior fascicular block Abnormality of the basal ganglia Dilated fourth ventricle Akinesia Amyotrophic lateral sclerosis Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Atrophy/Degeneration affecting the brainstem Urinary bladder sphincter dysfunction Delusions Absent Achilles reflex Spinocerebellar tract degeneration Spastic dysarthria Olivopontocerebellar atrophy Myokymia Low back pain Chronic pain Truncal ataxia Torsion dystonia Hypometric saccades Restless legs Dysmetric saccades Delirium Supranuclear ophthalmoplegia Downbeat nystagmus Impaired horizontal smooth pursuit Palatal myoclonus Facial-lingual fasciculations Abnormal electrooculogram High palate Midface retrusion Obesity Abnormal autonomic nervous system physiology Fasciculations Dyspnea Abnormal pyramidal sign Pain Visual impairment Peripheral neuropathy Tremor Cerebellar atrophy Depressivity Babinski sign Dementia Myoclonus Diabetes mellitus Gait ataxia Proptosis Anxiety Abnormality of the eye Leukemia Hallucinations Unsteady gait Confusion Sensory neuropathy Neurodegeneration Polyneuropathy Postural instability Abnormal cerebellum morphology Parkinsonism Progressive cerebellar ataxia Gliosis Bradykinesia Abnormality of extrapyramidal motor function Limb ataxia Diplopia Pectus excavatum Neonatal hypotonia Severe lactic acidosis Type 1 muscle fiber atrophy Abnormal atrioventricular conduction Increased LDL cholesterol concentration Atrial arrhythmia Shoulder girdle muscle atrophy Peroneal muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Nystagmus Peroneal muscle weakness Ventricular escape rhythm Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal muscle weakness in lower limbs Restricted neck movement due to contractures Absent muscle fiber emerin Hearing impairment Cerebral atrophy Lumbar hyperlordosis Gynecomastia Intellectual disability, progressive Ragged-red muscle fibers Infantile muscular hypotonia Delayed gross motor development Nasal speech Decreased muscle mass Generalized amyotrophy Facial diplegia Supraventricular arrhythmia Distal lower limb muscle weakness Lower limb muscle weakness Ventricular arrhythmia Ichthyosis Vertigo Falls Sudden cardiac death Syncope Myocardial infarction Atrial fibrillation Hypertriglyceridemia Palpitations Frequent falls Bradycardia Elbow flexion contracture Knee flexion contracture Reduced tendon reflexes Atrioventricular block Achilles tendon contracture Lipodystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Calf muscle hypertrophy Difficulty climbing stairs Spinal rigidity Rimmed vacuoles Sprengel anomaly Heart block Progressive proximal muscle weakness Vocal cord paralysis Limb-girdle muscle weakness Distal lower limb amyotrophy Shoulder girdle muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation



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