Ptosis, and Lower limb muscle weakness

Diseases related with Ptosis and Lower limb muscle weakness

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


Top matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8


Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 Is also known as cmsppd|myasthenic syndrome, congenital, due to agrin deficiency|myasthenic syndrome, congenital, with pre- and postsynaptic defects

Related symptoms:

  • Muscle weakness
  • Ptosis
  • High palate
  • Respiratory insufficiency
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

Medium match MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A


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, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic SyndromesRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (OMIM ) are caused by mutation in the CHRNA1 gene (OMIM ); CMS2A (OMIM ) and CMS2C (OMIM ) are caused by mutation in the CHRNB1 gene (OMIM ) on 17p12; CMS3A (OMIM ), CMS3B (OMIM ), and CMS3C (OMIM ) are caused by mutation in the CHRND gene (OMIM ) on 2q33; and CMS4A (OMIM ), CMS4B (OMIM ), and CMS4C (OMIM ) are caused by mutation in the CHRNE gene (OMIM ) on 17p13.CMS5 (OMIM ) is caused by mutation in the COLQ gene (OMIM ) on 3p25; CMS6 (OMIM ) is caused by mutation in the CHAT gene (OMIM ) on 10q; CMS7 (OMIM ) is caused by mutation in the SYT2 gene (OMIM ) on 1q32; CMS8 (OMIM ) is caused by mutation in the AGRN gene (OMIM ) on 1p; CMS9 (OMIM ) is caused by mutation in the MUSK gene (OMIM ) on 9q31; CMS10 (OMIM ) is caused by mutation in the DOK7 gene (OMIM ) on 4p; CMS11 (OMIM ) is caused by mutation in the RAPSN gene (OMIM ) on 11p11; CMS12 (OMIM ) is caused by mutation in the GFPT1 gene (OMIM ) on 2p14; CMS13 (OMIM ) is caused by mutation in the DPAGT1 gene (OMIM ) on 11q23; CMS14 (OMIM ) is caused by mutation in the ALG2 gene (OMIM ) on 9q22; CMS15 (OMIM ) is caused by mutation in the ALG14 gene (OMIM ) on 1p21; CMS16 (OMIM ) is caused by mutation in the SCN4A gene (OMIM ) on 17q; CMS17 (OMIM ) is caused by mutation in the LRP4 gene (OMIM ) on 11p12; CMS18 (OMIM ) is caused by mutation in the SNAP25 gene (OMIM ) on 20p11; CMS19 (OMIM ) is caused by mutation in the COL13A1 gene (OMIM ) on 10q22; CMS20 (OMIM ) is caused by mutation in the SLC5A7 gene (OMIM ) on 2q12; CMS21 (OMIM ) is caused by mutation in the SLC18A3 gene (OMIM ) on 10q11; and CMS22 (OMIM ) is caused by mutation in the PREPL gene (OMIM ) on 2p21.

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A Is also known as cms iia, formerly|myasthenic syndrome, congenital, type iia, formerly|cms2a, formerly

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

Medium match MYOPATHY, TUBULAR AGGREGATE, 1; TAM1


Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

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Other less relevant matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Medium match EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME


Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME Is also known as autosomal recessive spastic ataxia type 5|afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spax5

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME

Medium match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Medium match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Medium match X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match NEMALINE MYOPATHY 4; NEM4


Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Medium match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Top 5 symptoms//phenotypes associated to Ptosis and Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Limb muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ptosis and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Dysphagia Distal muscle weakness Respiratory insufficiency High palate Progressive muscle weakness Type 2 muscle fiber atrophy Ophthalmoplegia Dysarthria Elbow flexion contracture Peripheral neuropathy Fatigue Increased variability in muscle fiber diameter External ophthalmoplegia Feeding difficulties Cognitive impairment Facial palsy

Rare Symptoms - Less than 30% cases


Mental deterioration Proximal amyotrophy Limb-girdle muscle weakness Achilles tendon contracture Kyphosis Gait disturbance Pneumonia Muscular hypotonia Progressive external ophthalmoplegia Cardiomyopathy Intellectual disability Generalized hypotonia Ragged-red muscle fibers Neck flexor weakness Increased serum lactate Hyporeflexia Motor delay Cataract Hearing impairment Pectus excavatum Gowers sign Sudden cardiac death Myotonia Scapular winging Easy fatigability Difficulty running Scoliosis Palpitations Generalized muscle weakness Ophthalmoparesis Waddling gait Peripheral axonal neuropathy Dilated cardiomyopathy Arrhythmia Flexion contracture Myalgia Hyperlordosis Muscular dystrophy Type 1 muscle fiber atrophy Ventricular escape rhythm Exertional dyspnea Peroneal muscle weakness Proximal upper limb amyotrophy Absent muscle fiber emerin Vocal cord paralysis Pelvic girdle muscle atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Toe walking Weakness of facial musculature Restricted neck movement due to contractures Proximal muscle weakness in upper limbs Ankle contracture Distal lower limb amyotrophy Sprengel anomaly Reduced ejection fraction Proximal lower limb amyotrophy Sinus bradycardia Tip-toe gait Micrognathia Increased LDL cholesterol concentration Spinal rigidity Supraventricular arrhythmia Rimmed vacuoles Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Peroneal muscle atrophy Restrictive ventilatory defect Hypertonia Epiphora Congestive heart failure Hypogonadism Diabetes mellitus Infertility Confusion Tachycardia Decreased antibody level in blood Spontaneous abortion Hypercholesterolemia Leukoencephalopathy Neurofibrillary tangles Hypertension IgG deficiency Oligospermia Male hypogonadism Elevated circulating follicle stimulating hormone level IgM deficiency Arteriosclerosis Hypersomnia Frontal balding Diffuse leukoencephalopathy Insulin insensitivity Tremor Pain Dilatation Congenital contracture Kyphoscoliosis Difficulty walking Neonatal hypotonia Feeding difficulties in infancy Unsteady gait Mitral valve prolapse Abnormal lung morphology Narrow face Infantile muscular hypotonia Nasal speech Myopathic facies Generalized limb muscle atrophy Lipodystrophy Neck muscle weakness Aortic root aneurysm Hypoventilation Facial diplegia Nemaline bodies Trismus Type 1 muscle fiber predominance Central hypoventilation Reduced vital capacity Nocturnal hypoventilation Limb-girdle muscular dystrophy Dysphonia Back pain Astigmatism Hepatomegaly Encephalopathy Constipation Hypothyroidism Acidosis Elevated hepatic transaminase Abnormality of the liver Metabolic acidosis Hyporeflexia of lower limbs Oligohydramnios Cardiomegaly Nephrotic syndrome Ventricular hypertrophy Left ventricular hypertrophy Amblyopia Exercise intolerance Congenital nephrotic syndrome Weakness of the intrinsic hand muscles Abnormal pupil morphology Ataxia Decreased size of nerve terminals Dyspnea Pes planus Narrow chest Diplopia Pectus carinatum Difficulty climbing stairs Fatigable weakness Hand muscle atrophy Intermittent episodes of respiratory insufficiency due to muscle weakness Exercise-induced myalgia Prolonged miniature endplate currents Nyctalopia Falls Muscle cramps Frequent falls Muscle stiffness Centrally nucleated skeletal muscle fibers Areflexia of lower limbs Seizures Spasticity Atrioventricular block Obesity Hepatic failure Peripheral demyelination Fasciculations Decreased nerve conduction velocity Rhabdomyolysis Mitochondrial myopathy Ventriculomegaly Short neck Hypertrophic cardiomyopathy Sensorineural hearing impairment Joint stiffness Ichthyosis Hypertriglyceridemia Atrial fibrillation Bradycardia Respiratory insufficiency due to muscle weakness Reduced tendon reflexes EMG: myopathic abnormalities Cerebral cortical atrophy Abnormal mitochondria in muscle tissue Cerebellar atrophy Generalized myoclonic seizures Dystonia Intellectual disability, mild Cerebellar hypoplasia Myoclonus EEG abnormality Generalized tonic-clonic seizures Dysmetria Distal amyotrophy Apraxia Increased intramyocellular lipid droplets Spastic gait Sensorimotor neuropathy Spastic paraparesis Oculomotor apraxia Dysdiadochokinesis Demyelinating peripheral neuropathy Spastic dysarthria Spastic ataxia Iridescent posterior subcapsular cataract



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