Myopathy, and Dysphagia

Diseases related with Myopathy and Dysphagia

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


Top matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A


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

Medium match SPHEROID BODY MYOPATHY


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

Medium match NEMALINE MYOPATHY 6; NEM6


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

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Other less relevant matches:

Medium match PARAMYOTONIA CONGENITA OF VON EULENBURG


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

Medium match MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A


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

Medium match DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT


Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.

DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT Is also known as distal abd-filaminopathy|williams distal myopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Dysphagia
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Medium match NEMALINE MYOPATHY 8; NEM8


Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Flexion contracture
  • Dysphagia
  • Myopathy
  • Respiratory failure
  • Facial palsy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 8; NEM8

Medium match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A


Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A Is also known as limb-girdle muscular dystrophy due to myotilin deficiency|lgmd1a

Related symptoms:

  • Dysphagia
  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Respiratory failure
  • Proximal muscle weakness


SOURCES: MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Top 5 symptoms//phenotypes associated to Myopathy and Dysphagia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Facial palsy Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Myofibrillar myopathy Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Muscle stiffness Exercise intolerance Progressive proximal muscle weakness Nemaline bodies Myalgia EMG: myopathic abnormalities Difficulty climbing stairs Ophthalmoparesis Hyporeflexia Increased variability in muscle fiber diameter Rimmed vacuoles Dysarthria Ophthalmoplegia External ophthalmoplegia Progressive external ophthalmoplegia Respiratory failure Limb muscle weakness Bilateral ptosis Gait disturbance Absent Achilles reflex Neonatal hypotonia Inability to walk Progressive muscle weakness Respiratory insufficiency due to muscle weakness Neck flexor weakness Easy fatigability Generalized muscle weakness Abnormality of the thorax Motor delay Flexion contracture Multiple mitochondrial DNA deletions Increased muscle fatiguability Distal upper limb amyotrophy Anxiety Abnormality of the calf musculature Gait ataxia Glaucoma Akinesia Fatigue Thenar muscle weakness Ataxia Hearing impairment Depressivity Fetal akinesia sequence Hypokinesia Limited elbow flexion Mitochondrial myopathy Ragged-red muscle fibers Scapular winging Increased serum lactate Skeletal muscle atrophy Reduced maximal inspiratory pressure Limited knee flexion/extension Hip flexor weakness Increased endomysial connective tissue Muscular dystrophy Functional respiratory abnormality Fatty replacement of skeletal muscle Autophagic vacuoles Reduced vital capacity Difficulty standing Pelvic girdle muscle weakness Shoulder girdle muscle weakness Facial hypotonia Foot dorsiflexor weakness Distal lower limb amyotrophy Poor head control Mildly elevated creatine phosphokinase Waddling gait Myotonia of the face Paradoxical myotonia Cold paresis Neonatal inspiratory stridor Handgrip myotonia Periodic hypokalemic paresis Percussion myotonia Myotonia Broad-based gait Myotonia of the upper limb Feeding difficulties Nasal speech Centrally nucleated skeletal muscle fibers Neck muscle weakness Difficulty running Proximal amyotrophy Clumsiness Bradykinesia Falls Cold-sensitive myotonia Abnormality of potassium homeostasis Peripheral neuropathy Fatigable weakness Cardiomyopathy Pain Generalized hypotonia due to defect at the neuromuscular junction 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 Weak cry Facial muscle hypertrophy Bulbar palsy Tremor Abnormality of metabolism/homeostasis Poor suck Feeding difficulties in infancy Respiratory distress Strabismus Generalized hypotonia Myotonia of the jaw Decreased activity of mitochondrial respiratory chain



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