Muscular hypotonia, and Flexion contracture

Diseases related with Muscular hypotonia and Flexion contracture

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

Top matches:

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Related symptoms:

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

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

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

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

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

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS Is also known as elhattab-alkuraya syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Facial palsy Progressive muscle weakness Gait disturbance Skeletal muscle atrophy Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Intellectual disability Increased variability in muscle fiber diameter Knee flexion contracture Seizures Bulbar palsy Distal muscle weakness Global developmental delay Poor head control Respiratory failure Spastic paraplegia Areflexia Respiratory insufficiency Increased connective tissue Reduced tendon reflexes Motor delay Proximal muscle weakness Respiratory insufficiency due to muscle weakness Hyperreflexia Arthrogryposis multiplex congenita Decreased fetal movement Nemaline bodies Ophthalmoplegia Neck muscle weakness Generalized muscle weakness Severe muscular hypotonia Premature birth Polyhydramnios Feeding difficulties Hip contracture High pitched voice Easy fatigability Narrow face Long face Neonatal hypotonia High palate Ophthalmoparesis Distal amyotrophy Spasticity Absent Achilles reflex Intellectual disability, profound Spastic tetraplegia Tetraplegia Inability to walk Muscular hypotonia of the trunk Kyphoscoliosis Absent speech Hypoplasia of the corpus callosum Ventriculomegaly Microcephaly Flexion contracture of finger Hyperactive patellar reflex Poor fine motor coordination Ankle contracture Dysarthria Progressive spasticity Brisk reflexes Impaired vibratory sensation Spastic paraparesis Spastic gait Distal sensory impairment Short stature Paraplegia Mental deterioration Difficulty walking Pes cavus Babinski sign Visual loss Ptosis Rimmed vacuoles Wrist drop Fasciculations Hypertonia Tremor Nystagmus Ataxia Rectus femoris muscle atrophy Stooped posture Delayed ability to walk Difficulty running Elbow flexion contracture Joint laxity EEG abnormality Kyphosis Left ventricular septal hypertrophy Limb joint contracture Proximal amyotrophy Bilateral talipes equinovarus Congenital muscular dystrophy Muscular dystrophy Talipes equinovarus EMG abnormality Limitation of joint mobility Gait ataxia Abnormality of the eye Hand muscle atrophy Spinal rigidity Muscle fiber atrophy Neck flexor weakness Achilles tendon contracture Centrally nucleated skeletal muscle fibers Scapular winging Foot dorsiflexor weakness Waddling gait Hyperlordosis Progressive proximal muscle weakness Respiratory distress Gowers sign Abnormality of eye movement Frequent falls Falls Rigidity Alternating esotropia Limb hypertonia Athetosis Status epilepticus Epileptic encephalopathy Esotropia Generalized myoclonic seizures Cerebral hypoplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Sensory neuropathy, related diseases and genetic alterations High palate and Delayed speech and language development, related diseases and genetic alterations Low-set ears and Hematuria, related diseases and genetic alterations Spasticity and Glucose intolerance, related diseases and genetic alterations Micrognathia and Polyhydramnios, related diseases and genetic alterations Anemia and Nail dystrophy, related diseases and genetic alterations