Muscle weakness, and Dysphagia

Diseases related with Muscle weakness and Dysphagia

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

Top matches:

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

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18

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 AChR 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; acetylcholinesterase 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:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Dysphagia
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

Other less relevant matches:

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Related symptoms:

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPHEROID BODY MYOPATHY

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Dysphagia
  • Respiratory failure
  • Fasciculations


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12

NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE Is also known as scapuloperoneal syndrome, neurogenic type, of kaeser|stark-kaeser syndrome|kaeser syndrome

Related symptoms:

  • Skeletal muscle atrophy
  • Dysphagia
  • Talipes equinovarus
  • Facial palsy
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE

Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 6; NEM6

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

PARAMYOTONIA CONGENITA OF VON EULENBURG Is also known as paramyotonia congenita

Related symptoms:

  • Feeding difficulties
  • Dysphagia
  • Neonatal hypotonia
  • Myalgia
  • Muscle stiffness


SOURCES: ORPHANET MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG

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; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A Is also known as cms1a1, formerly|cms ia1, formerly|congenital myasthenic syndrome type ia1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Ptosis
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A

Top 5 symptoms//phenotypes associated to Muscle weakness and Dysphagia

Symptoms // Phenotype % cases
Myopathy Uncommon - Between 30% and 50% cases
Facial palsy Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Amyotrophic lateral sclerosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle stiffness Respiratory insufficiency Limb muscle weakness

Rare Symptoms - Less than 30% cases

Proximal muscle weakness Generalized hypotonia Distal muscle weakness Respiratory insufficiency due to muscle weakness Clumsiness Peripheral neuropathy Neck flexor weakness Easy fatigability Progressive muscle weakness Feeding difficulties Neonatal hypotonia Fasciculations Skeletal muscle atrophy Spasticity Motor delay Spastic tetraparesis Handgrip myotonia Periodic hypokalemic paresis Percussion myotonia Spastic gait Myotonia EMG: myopathic abnormalities Abnormal nerve conduction velocity Myalgia Cold paresis Paraparesis Abnormal upper motor neuron morphology Degeneration of the lateral corticospinal tracts Spastic dysarthria Spastic paraparesis Neonatal inspiratory stridor Feeding difficulties in infancy Paradoxical myotonia Ophthalmoparesis Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Fatigable weakness Weak cry Bulbar palsy Bilateral ptosis Myotonia of the face Poor suck Peripheral axonal neuropathy Respiratory distress Strabismus Myotonia of the jaw Facial muscle hypertrophy Abnormality of potassium homeostasis Myotonia of the upper limb Cold-sensitive myotonia Tetraparesis Falls Confusion Waddling gait Respiratory failure Myofibrillar myopathy Absent Achilles reflex Proximal amyotrophy Centrally nucleated skeletal muscle fibers Nasal speech Broad-based gait Elevated serum creatine phosphokinase Talipes equinovarus Abnormality of metabolism/homeostasis Tremor Poor head control Generalized muscle weakness Inability to walk Fatigue High palate Tongue fasciculations Muscular dystrophy Babinski sign Bradykinesia Hyperreflexia Nemaline bodies Progressive proximal muscle weakness Neck muscle weakness Difficulty running Difficulty climbing stairs Exercise intolerance Gait disturbance Paraplegia Scapuloperoneal weakness Scapuloperoneal amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Foot dorsiflexor weakness Gynecomastia Polyneuropathy Talipes Generalized hypotonia due to defect at the neuromuscular junction


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