Disease Information for Myopathy, Myotubular/Centronuclear

Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Constipation Children
Tongue Protrudes Infant
Calf enlargement/bilateral
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle weakness
Muscles Soft/Doughy Infant
Proximal muscle weakness
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Facial muscle weakness/myopathy
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Double Image Vision Confirmed
Ptosis (blepharoptosis)
Demographics & Risk Factors
Population Group
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Infant male
Diagnostic Test Results
BX/Muscle biopsy/centralization of nuclei
EMG/Abnormal findings
EMG/Myotonic muscle activity
Associated Diseases & Rule outs
Rule Outs
Eaton-Lambert syndrome
Muscular dystrophy
Respiratory muscle weakness
Associated Disease & Complications
Acute respiratory failure/Respiratory arrest
Metabolic Myopathy
Neonatal Hypotonia/Floppy Baby Syndrome
Respiratory neonatal distress syndrome
Disease Mechanism & Classification
CLASS/Muscle disorder (ex)
CLASS/Striated muscle disorder (ex)
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Maternal Chromosome mutation
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Disease with many subtypes (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)

Myopathy, Myotubular; Autosomal Dominant Centronuclear Myopathy; Autosomal Recessive Centronuclear Myopathy; Centronuclear Myopathy; Myopathy, Myotubular; Myotubular Myopathy Type 1 (MTM1); Myotubular Myopathy, X-linked; X-linked Congenital Recessive Muscle Hypotrophy with Central Nuclei; X-linked Myotubular Myopathy; X-linked Recessive Centronuclear Myopathy; X-linked Recessive Myotubular Myopathy; Subdivisions: Autosomal Dominant Centronuclear Myopathy; Autosomal Recessive Centronuclear Myopathy; X-Linked Centronuclear Myopathy; Myotubular Myopathy is a rare muscle wasting disorder that occurs in three forms; The most severe form is present at birth, inherited as an X- Linked genetic trait, and presents itself with severe respiratory muscle weakness; A less severe form of Myotubular Myopathy is present at birth or early childhood, progresses slowly and is inherited as an autosomal recessive genetic trait; The least severe of the three forms of Myotubular Myopathy is inherited as an autosomal dominant genetic trait, presents itself between the first and third decades of life and is slowly progressive; [NORD]


Myotubular myopathy refers to the appearance of the affected muscle fibres that look like ‘myotubes’ which are muscle cells found only during foetal development; The condition is also sometimes known as ‘centronuclear myopathy’ because the nuclei of affected muscle cells are found in the centre of the cell instead of around the edge (which is what happens in healthy muscle cells);There are different three forms of myotubular myopathy; The most severe form presents antenatally or at birth, and is the most common; Symptoms include a lack of foetal movement in the late stages of pregnancy, and swallowing and breathing difficulties at birth; In extremely severe cases the baby may not survive more than a few days; This type of myotubular myopathy is inherited in an X-linked pattern; The other two forms, automomal dominant and autosomal recessive, are very rare and present later in life with milder symptoms; These include: paralysis of the muscles of the eye; drooping eyelids; facial weakness; enlargement (hypertrophy) of the calves; Sporadic cases have also been reported where there is no previous family history; [MDF]


External Links Related to Myopathy, Myotubular/Centronuclear
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)