Myopathy, and Decreased fetal movement

Diseases related with Myopathy and Decreased fetal movement

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

Top matches:

Medium match CENTRAL CORE DISEASE

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Related symptoms:

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about CENTRAL CORE DISEASE

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

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

Other less relevant matches:

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.

DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME Is also known as mtdna deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtdna deletion syndrome with progressive myopathy|mitochondrial dna deletion syndrome with limb-girdle weakness|mitochondrial dna deletion syndrom

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Decreased fetal movement

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Respiratory insufficiency due to muscle weakness Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Decreased fetal movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nemaline bodies Muscle weakness Facial palsy Fetal akinesia sequence Neonatal hypotonia Global developmental delay Severe muscular hypotonia Motor delay Polyhydramnios Skeletal muscle atrophy Akinesia

Rare Symptoms - Less than 30% cases

Feeding difficulties Arthrogryposis multiplex congenita Muscular hypotonia Ophthalmoplegia Generalized amyotrophy Ventricular septal defect Hyperlordosis Gait disturbance High palate Narrow chest Growth delay Areflexia Small for gestational age Respiratory failure Limb-girdle muscle weakness Talipes equinovarus Axial muscle weakness Myofibrillar myopathy Neck muscle weakness Gowers sign Distal muscle weakness Centrally nucleated skeletal muscle fibers Exertional dyspnea Abnormality of the foot Limb muscle weakness Muscular dystrophy External ophthalmoplegia Sleep apnea Arrhythmia Congestive heart failure Obstructive sleep apnea Failure to thrive Progressive external ophthalmoplegia Talipes Oval face Overlapping fingers Hypomimic face Scaphocephaly Slender build Poor suck Joint hyperflexibility Myocardial infarction Exercise intolerance Dyspnea Congenital contracture Decreased nerve conduction velocity Peripheral neuropathy Single transverse palmar crease Spinal rigidity Abnormal lower motor neuron morphology Retinal hemorrhage Ptosis Difficulty walking Limitation of joint mobility Myalgia Apnea Congenital muscular dystrophy Muscle cramps Cachexia Poor head control EMG abnormality Thin ribs Joint contracture of the hand Increased variability in muscle fiber diameter High, narrow palate Waddling gait Handgrip myotonia Muscle fiber necrosis Autophagic vacuoles Muscle fiber splitting Rimmed vacuoles Difficulty climbing stairs Limb-girdle muscular dystrophy EMG: myopathic abnormalities Torticollis Proximal muscle weakness Abnormality of the thorax Pelvic girdle muscle weakness Type 1 muscle fiber predominance Bulbar signs Malignant hyperthermia Easy fatigability Congenital hip dislocation Muscle stiffness Joint laxity Pes planus Dysphagia Hypokinesia Arachnodactyly Myopathic facies Dolichocephaly Camptodactyly Hypertelorism Progressive distal muscle weakness Breech presentation Cleft palate Micrognathia Scoliosis Dilation of lateral ventricles Open mouth Generalized muscle weakness Long face Abnormal cardiac septum morphology Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Delayed speech and language development Cryptorchidism Strabismus Increased connective tissue Bulbar palsy Premature birth Tip-toe gait


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