Flexion contracture, and Neonatal hypotonia

Diseases related with Flexion contracture and Neonatal hypotonia

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

Top matches:

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

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E Is also known as charcot-marie-tooth disease, type 4e|hypomyelination, severe congenital|autosomal recessive congenital hypomyelinating neuropathy|cmt4e|charcot-marie-tooth neuropathy, type 4e

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4E

Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

Other less relevant matches:

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

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 without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND Is also known as myopathy, congenital, with neuropathy and deafness|cmnd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Fast-channel congenital myasthenic syndrome (FCCMS) 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 abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B

Top 5 symptoms//phenotypes associated to Flexion contracture and Neonatal hypotonia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Intellectual disability Facial palsy Skeletal muscle atrophy Ophthalmoplegia Progressive muscle weakness Hip contracture Respiratory insufficiency Global developmental delay Scoliosis

Rare Symptoms - Less than 30% cases

Short stature Proximal amyotrophy Severe muscular hypotonia EMG: myopathic abnormalities Camptodactyly Facial diplegia Decreased fetal movement Respiratory insufficiency due to muscle weakness Cerebellar atrophy Peripheral neuropathy Distal amyotrophy Distal muscle weakness Talipes equinovarus Kyphoscoliosis Seizures Easy fatigability Generalized muscle weakness Microcephaly Micrognathia Ptosis Feeding difficulties Generalized amyotrophy Myopathic facies Ankle contracture Cerebral visual impairment Peripheral axonal neuropathy Mildly elevated creatine phosphokinase Absent speech Visual impairment Hearing impairment Reduced muscle fiber alpha dystroglycan Fatty replacement of skeletal muscle Limb-girdle muscle atrophy Cerebellar cyst Achilles tendon contracture Toe walking Congenital muscular dystrophy Frequent falls Pachygyria Heterotopia Muscle cramps Abnormality of the cerebral white matter Motor axonal neuropathy Centrally nucleated skeletal muscle fibers Demyelinating peripheral neuropathy Astigmatism Neck muscle weakness Weak cry Congenital contracture Macrotia Respiratory distress Dysphagia Curved fingers Accelerated skeletal maturation Amblyopia Overgrowth Nevus Full cheeks Talipes Demyelinating motor neuropathy Telecanthus Abnormality of the dentition Hypertonia Macrocephaly Abnormal facial shape Strabismus Axial muscle weakness Bifid uvula Dilated cardiomyopathy Retrognathia Narrow mouth Elevated serum creatine phosphokinase Cardiomyopathy Myalgia Polyhydramnios Difficulty walking Onion bulb formation Abnormality of the rib cage Type 1 muscle fiber predominance Nemaline bodies Delayed gross motor development Hypocalcemia Pectus carinatum Rigidity Hypoglycemia Tremor Peripheral hypomyelination Upper limb muscle weakness Abnormal cranial nerve morphology Decreased number of peripheral myelinated nerve fibers Shoulder flexion contracture Decreased motor nerve conduction velocity CNS hypomyelination Foot dorsiflexor weakness Peripheral demyelination Sensory impairment Arthrogryposis multiplex congenita Respiratory failure High pitched voice Ophthalmoparesis Poor head control Narrow face Long face Decreased hip abduction Spasticity Ventriculomegaly Hypertelorism Oval face Overlapping fingers Fetal akinesia sequence Scaphocephaly Akinesia Poor suck Joint contracture of the hand Single transverse palmar crease High, narrow palate Arachnodactyly Dolichocephaly Small for gestational age Growth delay Hypoplasia of the corpus callosum Diffuse cerebellar atrophy Progressive spastic quadriplegia Opisthotonus Intellectual disability, progressive Progressive microcephaly Intellectual disability, profound Spastic tetraplegia Generalized myoclonic seizures Tetraplegia Irritability Osteoporosis Cerebral atrophy Type 2 muscle fiber atrophy


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