Muscular hypotonia, and Ophthalmoplegia

Diseases related with Muscular hypotonia and Ophthalmoplegia

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Ophthalmoplegia that can help you solving undiagnosed cases.

Top matches:

Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Feeding difficulties
  • Respiratory insufficiency
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B

Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

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. Patients may show a favorable response to amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Patent ductus arteriosus


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9

Other less relevant matches:

Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from 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; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME Is also known as inclusion body myopathy type 3|ibm3|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|hibm3|inclusion body myopathy 3, autosomal dominant, formerly|ibm3, formerly|mypop|hereditary inclusion body myopathy type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Ophthalmoplegia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Facial palsy Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Ophthalmoplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Flexion contracture Ophthalmoparesis Skeletal muscle atrophy Easy fatigability Progressive muscle weakness Feeding difficulties Neck muscle weakness Neonatal hypotonia

Rare Symptoms - Less than 30% cases

High palate Dysarthria Proximal muscle weakness Respiratory failure Nystagmus Waddling gait Seizures External ophthalmoplegia Ataxia Generalized muscle weakness Scoliosis Gait disturbance Dysphagia Peripheral neuropathy Cognitive impairment Behavioral abnormality Progressive ophthalmoplegia Lethal infantile mitochondrial myopathy Lactic acidosis Areflexia Exercise intolerance Knee flexion contracture Apnea Difficulty walking Fatigue Abnormal cell morphology Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Headache ST segment elevation Abnormality of movement Scapular winging Hand muscle weakness Limb-girdle muscle weakness Rimmed vacuoles Myopathic facies Steppage gait Congenital contracture Nasal speech Ragged-red muscle fibers Distal muscle weakness Dysmetria Respiratory distress Abnormality of central motor conduction Olivopontocerebellar hypoplasia Limb dysmetria Positive Romberg sign Increased serum pyruvate Hashimoto thyroiditis Sensory axonal neuropathy Impaired vibratory sensation Abnormality of the substantia nigra Cerebral cortical atrophy Cerebral white matter atrophy Limb muscle weakness Hip contracture High pitched voice Poor head control Narrow face Long face Short stature Gowers sign Bilateral ptosis Respiratory tract infection Arthrogryposis multiplex congenita Hyperlordosis Patent ductus arteriosus Progressive external ophthalmoplegia Myoclonus Abnormal facial shape Microcephaly Global developmental delay Decreased miniature endplate potentials Polyhydramnios Premature birth Supranuclear ophthalmoplegia Parkinsonism Kinetic tremor Abnormal cortical gyration Slow saccadic eye movements Hyperactive deep tendon reflexes Postural tremor Fasciculations Chorea Progressive cerebellar ataxia Muscle cramps Decreased fetal movement Gait ataxia Dementia Hyporeflexia Dystonia Increased connective tissue Nemaline bodies Bulbar palsy Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Muscle fiber inclusion bodies


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