Generalized hypotonia, and Myopathy

High match ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

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

• Generalized hypotonia
• Growth delay
• Myopathy

SOURCES: MESH OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match BETHLEM MYOPATHY 2; BTHLM2

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN