Generalized hypotonia, and Myopathy

Diseases related with Generalized hypotonia and Myopathy

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


Top matches:

High match ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD


ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency|acaca deficiency

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B


Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

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 B4GALT1-CDG


B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

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 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 CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Medium match BETHLEM MYOPATHY 2; BTHLM2


BETHLEM MYOPATHY 2; BTHLM2 Is also known as ehlers-danlos syndrome, myopathic type|edsmyp|eds, myopathic type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 2; BTHLM2

Medium match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Limb muscle weakness Infantile muscular hypotonia

Rare Symptoms - Less than 30% cases


Cardiomyopathy Intellectual disability Muscular hypotonia Increased serum lactate Macrocephaly Stroke Easy fatigability Respiratory insufficiency Respiratory distress Failure to thrive Difficulty running Hypertrophic cardiomyopathy Progressive muscle weakness Skeletal muscle atrophy Cognitive impairment Myalgia Proximal muscle weakness Aciduria Cyanosis Scoliosis Progressive proximal muscle weakness Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Lactic acidosis Metabolic acidosis Kyphosis Acidosis Congestive heart failure Organic aciduria Generalized hypotonia due to defect at the neuromuscular junction Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials Flexion contracture Fasciculations Joint laxity Language impairment Autism Pes cavus Behavioral abnormality Intellectual disability, severe Motor delay Delayed speech and language development High palate Failure to thrive in infancy Seizures Autistic behavior Type 2 muscle fiber atrophy Rectus femoris muscle atrophy Stooped posture Gowers sign Decreased muscle mass Delayed ability to walk Long fingers Knee flexion contracture Elbow flexion contracture EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Strabismus Fatigable weakness Increased variability in muscle fiber diameter Autophagic vacuoles Generalized muscle weakness Pneumonia Muscle fiber splitting Increased connective tissue Distal lower limb muscle weakness Difficulty climbing stairs Calf muscle hypertrophy Congenital muscular dystrophy Dandy-Walker malformation Limb-girdle muscular dystrophy EMG: myopathic abnormalities Lower limb muscle weakness Muscular dystrophy Paralysis Difficulty walking Abnormality of the skeletal system Centrally nucleated skeletal muscle fibers Falls Hydrocephalus Abnormality of the coagulation cascade Weak cry Growth delay Bulbar palsy Ophthalmoparesis Bilateral ptosis Poor suck Respiratory insufficiency due to muscle weakness Feeding difficulties in infancy Dysphagia Ptosis Elevated creatine kinase after exercise Abnormality of coagulation Exercise-induced muscle fatigue Increased muscle fatiguability Exercise-induced myalgia Chronic fatigue Rhabdomyolysis Muscle cramps Areflexia Pain Stroke-like episode Abnormality of creatine metabolism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Telangiectasia, related diseases and genetic alterations Delayed speech and language development and Oligohydramnios, related diseases and genetic alterations Peripheral neuropathy and Basal cell carcinoma, related diseases and genetic alterations Strabismus and Polyhydramnios, related diseases and genetic alterations Failure to thrive and Hypertonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more