Myopathy, and Neonatal hypotonia

Diseases related with Myopathy and Neonatal hypotonia

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


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically 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 cholinesterase 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:

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


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Medium match CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES


Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

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

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Other less relevant matches:

Medium match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Medium match ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY


Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

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 ZEBRA BODY MYOPATHY


Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


SOURCES: ORPHANET MENDELIAN

More info about ZEBRA BODY MYOPATHY

Medium match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


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

Medium match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

Medium match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


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

Top 5 symptoms//phenotypes associated to Myopathy and Neonatal hypotonia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Easy fatigability

Rare Symptoms - Less than 30% cases


Fatigue Global developmental delay EMG: myopathic abnormalities Infantile muscular hypotonia Feeding difficulties Handgrip myotonia Facial palsy Respiratory insufficiency Autophagic vacuoles Waddling gait Cognitive impairment Gowers sign Motor delay Poor head control Respiratory insufficiency due to muscle weakness Progressive muscle weakness Generalized muscle weakness Torticollis Ptosis Dysphagia Muscle fiber necrosis Decreased fetal movement Axial muscle weakness Myofibrillar myopathy Neck muscle weakness Nemaline bodies Limb-girdle muscular dystrophy Rimmed vacuoles Difficulty climbing stairs Muscle fiber splitting Scoliosis Short stature Dyspnea Lactic acidosis Fatty replacement of skeletal muscle Increased variability in muscle fiber diameter Congenital muscular dystrophy Congenital hip dislocation Muscular dystrophy Intellectual disability Flexion contracture Hip contracture High pitched voice Ophthalmoparesis Narrow face Long face Ophthalmoplegia High palate Distal muscle weakness Periodic hypokalemic paresis Proximal muscle weakness Chronic fatigue Falls Centrally nucleated skeletal muscle fibers Inability to walk Cardiomyopathy Pneumonia Hypertrophic cardiomyopathy Pain Macrocephaly Areflexia Stroke Limb muscle weakness Muscle cramps Increased serum lactate Rhabdomyolysis Exercise-induced myalgia Myotonia of the jaw Increased muscle fatiguability Exercise-induced muscle fatigue Elevated creatine kinase after exercise Muscle stiffness Myotonia Percussion myotonia Neonatal inspiratory stridor Cold paresis Paradoxical myotonia Myotonia of the face Cold-sensitive myotonia Myotonia of the upper limb Abnormality of potassium homeostasis Facial muscle hypertrophy Lethal infantile mitochondrial myopathy



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