Myopathy, and Long face

Diseases related with Myopathy and Long face

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


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


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

High match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

High match SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME


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

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Other less relevant matches:

High match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME


X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

High match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

High match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

High match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

High match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Long face

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Increased variability in muscle fiber diameter Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Long face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


EMG: myopathic abnormalities Facial palsy Skeletal muscle atrophy Flexion contracture Difficulty climbing stairs Scapular winging Waddling gait Proximal muscle weakness Congestive heart failure Difficulty running Cardiomyopathy Short stature Respiratory insufficiency Narrow face Progressive muscle weakness Pes cavus Motor delay Respiratory insufficiency due to muscle weakness Global developmental delay Frequent falls Facial diplegia Open mouth Lumbar hyperlordosis Feeding difficulties Gowers sign Delayed speech and language development Hyperlordosis Myopathic facies Elevated serum creatine phosphokinase Ptosis Neonatal hypotonia Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Easy fatigability Intellectual disability

Rare Symptoms - Less than 30% cases


Generalized muscle weakness Pectus excavatum Pes planus Hypertonia Retrognathia Neck muscle weakness Slender build Hypertelorism Dysarthria Narrow chest Distal muscle weakness Broad-based gait Areflexia Generalized amyotrophy Short chin Muscle stiffness Difficulty walking Arthrogryposis multiplex congenita Dyspnea Nemaline bodies Achilles tendon contracture Muscular hypotonia of the trunk Reduced vital capacity Kyphosis Respiratory failure Strabismus Hip contracture Lower limb muscle weakness Ophthalmoparesis Decreased fetal movement Microcephaly Abnormal facial shape Poor head control Muscular dystrophy Ophthalmoplegia Protruding ear Mildly elevated creatine phosphokinase Thoracic kyphosis Muscle fiber necrosis Decreased muscle mass Congenital muscular dystrophy Right ventricular dilatation Increased endomysial connective tissue Falls Knee flexion contracture Sensory impairment Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Pectus carinatum Absent muscle fiber gamma sarcoglycan Muscular hypotonia Dysphagia Respiratory distress Reduced muscle fiber alpha sarcoglycan Poor fine motor coordination Distal lower limb amyotrophy External ophthalmoplegia Talipes equinovarus Intellectual disability, mild Narrow mouth Feeding difficulties in infancy Bifid uvula Left ventricular hypertrophy Dysphonia Neuromuscular dysphagia Bilateral ptosis Congenital contracture Long fingers Exertional dyspnea Abnormal heart valve morphology Axial muscle weakness Cognitive impairment Fatigable weakness of bulbar muscles Distal lower limb muscle weakness Bradykinesia Myokymia Shoulder girdle muscle atrophy Micrognathia Hyporeflexia Polyhydramnios Limb muscle weakness Clumsiness Increased muscle lipid content Exercise intolerance Spinal rigidity Fetal akinesia sequence Bulbar signs Breech presentation Tip-toe gait Generalized limb muscle atrophy Calf muscle pseudohypertrophy Small for gestational age Muscle fiber atrophy Aortic root aneurysm Long nose Mitral valve prolapse Reduced tendon reflexes Nasal speech Toe walking Thoracic scoliosis Lower limb amyotrophy Triangular face Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Intellectual disability, profound Aggressive behavior Spasticity Cryptorchidism High pitched voice Hypertrophic cardiomyopathy Dilated cardiomyopathy Scapuloperoneal amyotrophy Civatte bodies Scapuloperoneal weakness Ventricular septal defect EEG abnormality Hypoplasia of the corpus callosum Abnormal cardiac septum morphology Severe muscular hypotonia Dilation of lateral ventricles Gait disturbance High forehead Seizures Hyperreflexia Neck flexor weakness Skeletal muscle hypertrophy Arrhythmia Pneumonia Unsteady gait Inability to walk Macroglossia Limb-girdle muscular dystrophy Calf muscle hypertrophy Brisk reflexes Restrictive ventilatory defect Progressive proximal muscle weakness Right ventricular hypertrophy Upper limb muscle weakness Left ventricular failure Restrictive deficit on pulmonary function testing Thick upper lip vermilion Progressive microcephaly Wide nasal bridge Short philtrum Intellectual disability, severe Abnormality of the dentition Telecanthus Postnatal growth retardation Sparse hair Blepharophimosis Prominent nasal bridge Hypotelorism Synophrys Smooth philtrum Thick eyebrow Prominent nose Underdeveloped nasal alae Esotropia Eczema EMG: decremental response of compound muscle action potential to repetitive nerve stimulation



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