Congenital hypotonia and poor spontaneous movement often constitute the first findings in CMD patients [1]. Those neonates are also called "floppy infants". They may face enormous difficulties with respiration and the ingestion of food. Such severe disease usually entails a very short life expectancy. Individuals suffering from milder CMD show mild to moderate delays of motor development; they may or may not reach independent ambulation. Parents of children suffering from milder CMD are often unable to clearly define a time of symptom onset. They may present their child due to delayed attainment of gross motor milestones in infancy or childhood. In any case, muscle weakness augments over time. Initially unremarkable facial features tend to change and CMD patients eventually acquire myopathic facial characteristics. Macrocephaly may be noted. Additionally, joint mobility continually decreases and patients are prone to develop spinal deformities such as scoliosis, kyphosis and lordosis. If independent ambulation has been reached, it may be lost.

Muscular dystrophy may affect the eye muscles and CMD patients may develop ophthalmoplegia. Furthermore, malformations of ocular structures may be seen in those affected by CMD. In detail, microphthalmia, microcornea, iris hypoplasia, narrow anterior chamber angle with subsequent glaucoma, cataracts, retinal colobomas and detachment, hypoplastic or absent optic nerves have been described in CMD patients, particularly in those with abnormal glycosylation of α-dystroglycan [1].

Cardiac involvement is seen in some types of CMD. Patients may suffer from primary cardiomyopathy or arrhythmia, but may also develop right heart failure secondary to restrictive lung disease.

Besides muscular dystrophy and ocular malformation, central nervous system disorders are a hallmark of many types of CMD. Indeed, central nervous system involvement is one of the most important parameters when establishing the diagnosis: It is to be expected in most α-dystroglycanopathies, except in CMD type 1C [2]. In CMD type 1A, mental retardation is rarely observed and seizures affect up to 30% of affected individuals only, but brain imaging may reveal white matter anomalies [1]. Disturbances of mental development is not typical of CMD type Ullrich and Bethlem myopathy.

• Weakness

  The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). [ghr.nlm.nih.gov]

  These siblings, aged 37 and 40, are cognitively normal with mild non-progressive muscle weakness and a susceptibility to rhabdomyolysis. [ncbi.nlm.nih.gov]

  The patient 1 was a 6-year-old boy and first attended our hospital at the age of 4 years due to hypotonia, weakness, poor weight gain, and contracture of knees. From birth, he exhibited marked hypotonia with generalized muscle weakness. [pediatricneurosciences.com]

• Feeding Difficulties

  People with CMDs are often afflicted with a wide range of health complications, including cognitive impairment, respiratory complications, cardiac complications, feeding difficulties, scoliosis, and nutritional deficiencies. [neurologyadvisor.com]

  […] videofluoroscopy Statistics from Altmetric.com congenital muscular dystrophy feeding difficulties aspiration videofluoroscopy In recent years there has been increasing awareness of the feeding difficulties experienced by children with neurodevelopmental [adc.bmj.com]

  Some infants may experience respiratory and feeding difficulties shortly after birth (neonatal period). Feeding difficulties may result in affected children failing to gain weight and grow at the expected rate (failure to thrive). [rarediseases.org]

  In literature, several studies have reported respiratory insufficiency, feeding difficulties, cardiomyopathy, sensory and motor demyelinating neuropathy, seizure, and external ophthalmoplegia. [3], [6], [7], [8] Our patients manifested with generalized [pediatricneurosciences.com]

  Speech therapy and swallowing studies are used to evaluate those with feeding difficulties and/or possible aspiration. Interventions may be needed for inadequate weight gain and poor feeding. [ncbi.nlm.nih.gov]

• Difficulty Walking

  The symptoms include: trouble walking loss of reflexes difficulty standing up poor posture bone thinning scoliosis, which is an abnormal curvature of your spine mild intellectual impairment breathing difficulties swallowing problems lung and heart weakness [healthline.com]

  Most children with RSMD1 achieve the ability to walk, yet may develop Scoliosis as well as respiratory difficulty. Breathing difficulties may go unnoticed initially, and may be experienced prior to difficulties with walking. [disabled-world.com]

  The weakness progresses slowly, so that in their 40s and 50s, men with this condition may have difficulty walking. Weakness of the heart and breathing muscles can occur and may need treatment. [patient.info]

  Most individuals are able to walk independently although because of progressive spinal rigidity and scoliosis they may experience difficulties walking later during life. [rarediseases.org]

• Dysmorphic Face

  In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short. [doi.org]

• Anemia

  A CELLULE FALCIFORMI ANEMIA CONGENITA DISERITROPOIETICA ANEMIA DI FANCONI ANEMIA SIDEROBLASTICA ANGELMAN SINDROME DI ANGIOEDEMA DI QUINCK ANGIOMA ANOMALIA MITRALICA CONGENITA ANTICORPI ANTIFOSFOLIPIDI SINDROME DA APERT SINDROME DI ARNOLD CHIARI SINDROME [birdfoundation.org]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Dysphagia

  Mechanical insufflation-exsufflation (MI-E) interventions were also employed in six patients with serious dysphagia and were well-tolerated in all cases. [ncbi.nlm.nih.gov]

  An autosomal dominant hereditary disease that presents in late in life and is characterized by dysphagia and progressive ptosis of the eyelids. [icd10data.com]

  Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia [blueprintgenetics.com]

• Macroglossia

  Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of the muscles of the arms, and contractures, especially of the Achilles tendon, [rarediseases.org]

  Additional features include moderate hepatomegaly and macroglossia. [ncbi.nlm.nih.gov]

• Jaundice

  Brain and spinal cord injury that may include bleeding into the brain Serious infections of the brain and its parts like meningitis or encephalitis Kernicterus – This condition is severe affliction of the brain of the new born with bilirubin from the jaundice [news-medical.net]

• Heart Block

  Emery-Dreifuss MD sometimes affects a part of the heart which controls the heart rate. This may cause a slow heartbeat (called heart block) and symptoms of tiredness, giddiness or fainting. This can be treated with a heart pacemaker. [patient.info]

  ECG may show heart block. EMG may be useful for diagnosis. The response to treatment with acetylcholinesterase inhibitors is diagnostic. [doi.org]

• Follicular Hyperkeratosis

  Joint hyperlaxity and skin changes (follicular hyperkeratosis and muscle biopsy scar thinning) were unique to COL6A. Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. [ncbi.nlm.nih.gov]

  UCMD patients usually have dry soft skin and follicular hyperkeratosis over the extensor surfaces of the extremities. Early respiratory failure is a common complication and potential cause of death. [orpha.net]

  Some dermatological symptoms are present as follicular hyperkeratosis and tendency to form adherence in scars. [pepsic.bvsalud.org]

  Other characteristic findings include protrusion of the calcanei, follicular hyperkeratosis, and a predisposition to hypertrophie (keloid) scars.19,20 Serum creatine kinase (CK) is normal or only mildly elevated in Ullrich CMD. [healio.com]

  In addition to these skeletal features, UCMD patients show a recognisable skin pathology in the form of follicular hyperkeratosis pilaris and abnormal scarring following skin injury mainly in the form of hypertrophic scars and keloids [ 3, 4 ]. [doi.org]

• Muscle Weakness

  RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory [ncbi.nlm.nih.gov]

• Muscular Atrophy

  The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to [ncbi.nlm.nih.gov]

  Dystrophy - som.unm.edu/programs/opmd Spinal Muscular Atrophy - smaregistry.iu.edu [cmdir.org]

  Differential diagnosis In the neonatal period, the differential diagnoses include Bethlem myopathy and other forms of congenitalmuscular dystrophy (CMD) and myopathy, spinal muscular atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these [orpha.net]

  […] of nerves to send messages to the muscles Infections Genetic or chromosomal disorders, or defects that may cause brain and nerve damage include: Down syndrome Spinal muscular atrophy Prader-Willi syndrome Tay-Sachs disease Trisomy 13 Other disorders [nlm.nih.gov]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

• Hip Dislocation

  dislocation and a type of curvature of the spine known as ’kyphoscoliosis’. [santhera.com]

  Clinical description Weakness of the facial muscles, a high-arched palate, congenital hip dislocation, protrusion of the calcaneus, torticollis, transient kyphotic deformity, contractures (particularly involving the elbows and knees), and distal laxity [orpha.net]

  dislocation, prominent ears, joint contractures, torticollis (a persistent tilting or turning of the head), and skin changes, among other symptoms. [disabilitybenefitscenter.org]

  Persons with UCMD commonly experience muscle weakness, kyphoscoliosis, hip dislocation at birth, prominent heel bones, hyper-pigmented skin lesions, hyper-extensible finger joints, and elbow contractures. [disabled-world.com]

  Pros and cons of surgery for hip dislocation or joint contractures need to be considered given that any functional benefit may be insignificant compared to the high risk of pain and rapid relapse. [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  Muscle tone and movement involve the brain, spinal cord, nerves, and muscles. Hypotonia may be a sign of a problem anywhere along the pathway that controls muscle movement. [nlm.nih.gov]

  Defects may lie at the level of the muscles. Types of hypotonia Hypotonia may be seen at birth or later. At birth it is termed congenital hypotonia and it seen later it is called acquired hypotonia. [news-medical.net]

  Patients manifest generalized muscle weakness and hypotonia from early infancy, mental retardation, and seizures. [doi.org]

• Flexion Contracture

  The distal joints of the hands, ankles, toes, and fingers show lifelong hyperextensibility, but with age the distal hyperlaxity can give way to marked long lasting finger flexion contractures and tight Achilles tendons. [orpha.net]

  Flexion contractures of the elbow and fingers were apparent in several children at infancy. Flexion contractures of the knees (D-04, D-05, E-10 and E-11) disappeared during childhood. [academic.oup.com]

  The bilateral (10º) hip flexion contractures were initially noted, which evolved to 20º, in knee flexion bilaterally (50º), progressing to -60º in the third evaluation and obtaining a return to 50º in the fourth evaluation. [pepsic.bvsalud.org]

• Strabismus

  Several patients have had strabismus. Systemic Features: Progressive muscle weakness begins in early childhood. Hypotonia is usually present at birth followed by atrophy of the proximal muscles (especially in the lower limbs). [disorders.eyes.arizona.edu]

  Individuals with FCMD also have eye (ocular) abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos). [rarediseases.org]

  Her neurological examination showed speech delay, strabismus, proximal and distal weakness with hypotonia of the upper limbs, and signs of hypertonia in the lower limbs with slight contracture of the fingers and wrist. [doi.org]

• Reduced Fetal Movement

  The pregnancy history displays reduced fetal movements and poli-hydramnios. Clinical signs are present at birth. Affected infants show deficit of diaphragm and intercostal muscle functions and facial diplegia. [doi.org]

• Seizure

  Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. [ncbi.nlm.nih.gov]

  More than half of all affected children also experience seizures. Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. [ghr.nlm.nih.gov]

• Nystagmus

  Ocular abnormalities associated MEB disease include increased pressure within the eyes (infantile glaucoma), clouding of the lenses of the eyes (cataracts), rapid, involuntary eye movements (nystagmus), underdevelopment of the nerve-rich membrane lining [rarediseases.org]

  Enlarged ventricles, brainstem hypoplasia and cerebellar hypoplasia are also very frequent.36,38 Ocular involvement is an invariable feature, ranging from severe myopia and retinal hypoplasia to congenital and infantile glaucoma, nystagmus, and cataract [healio.com]

  In their first presentation, the authors referred that patients with this disorder had poor psychomotor development, hypotonia, and ocular symptoms, including nystagmus with suspicion of glaucoma. [doi.org]

• Areflexia

  […] dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia [blueprintgenetics.com]

  A few years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia, areflexia, and failure to thrive. [doi.org]

• Hyporeflexia

  Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase. Provisional diagnosis of congenital myopathy was entertained. [ncbi.nlm.nih.gov]

• Facial Muscle Weakness

  They are mouth breathers and this has been shown to cause abnormal mandibular growth and an open bite. 24 It is also possible that the facial muscle weakness influences jaw growth in childhood, resulting in malocclusion. [adc.bmj.com]

Due to the heterogeneity of CMD and ongoing doubts regarding the genetic causes of certain types of the disease, anamnestic and clinical data remain essential for diagnosis. In detail, it is important to assess [1]:

• Whether symptoms were present at birth or developed later on
• The course of the disease, including the progression of muscle wasting and weakness as well as the possible development of muscle hypertrophy
• Type and time of onset of joint contractures and laxity, subsequent orthopedic deformities, respiratory distress and right heart failure. While diffuse joint contractures are characteristic of α-dystroglycanopathies, proximal joint contractures and hyperlaxity of the distal joints can be observed in patients suffering from Collagen VI-related CMD.
• Cognitive abilities, central nervous system and eye involvement. Magnetic resonance imaging of the brain should be conducted to recognize white matter anomalies that may exist even in the absence of mental retardation. Other common findings include hydrocephalus, brainstem and/or cerebellar hypoplasia, cerebellar cysts, cobblestone lissencephaly, and polymicrogyria.
• Skin changes such as hypertrophic scars or keloid formation

Analyses of blood samples typically reveal slightly to markedly elevated levels of creatine kinase, but don't yield specific results that would allow for a reliable diagnosis. Highest concentrations of creatine kinase are measured in those suffering from CMD type 1A (primary merosin deficiency) or α-dystroglycanopathies (secondary merosin deficiency).

In order to provide a reliable diagnosis, histological examinations of muscle biopsy samples and genetic tests have to be realized. Magnetic resonance imaging of skeletal muscles is generally done before the decision on a certain biopsy site is taken. After performing the biopsy, immunohistochemical staining of muscle samples for glycosylated α-dystroglycan, laminin subunit α2, and collagen VI should be realized in order to distinguish the respective groups of CMD [3]. Microscopic examination of the native specimen usually reveals non-specific dystrophic changes of muscle fibers, e.g., fiber size variability, degeneration of muscle fibers, fibrosis, and lipomatosis [4]. Finally, molecular biological techniques are applied to identify the causal gene mutation. Because ultimately, genetic tests for CMD rely on multi-gene panels that include several genes associated with CMD, some authors state that muscle biopsies are no longer indispensable in cases where anamnestic and clinical data justify the tentative diagnosis of CMD [1].

• Brain MRI Abnormal

  In those with congenital muscular dystrophies due to mutations in laminin-α2 or with any other congenital muscular dystrophy due to abnormal O-glycosylation, brain MRI findings are abnormal. [emedicine.medscape.com]

Causal treatment is not available and according to current knowledge, disease progression cannot be delayed pharmacologically. Thus, supportive therapy remains the only alternative. A multidisciplinary approach is required to improve a patient's quality of life. In this regard, tailor-made therapies are to be provided. They should be adapted to the individual patient's necessities and disease progression. In detail, affected individuals may need respiratory aids, non-invasive respiratory support, or mechanical ventilation. Orthopedic devices and physical therapy are often helpful to improve or maintain mobility, but surgical interventions may become necessary, too. Additionally, psychological support should be provided to CMD patients and their families.

The patient's prognosis largely depends on the type of CMD they are suffering from: Severe CMD is often early fatal, while individuals affected by mild CMD usually survive into adulthood and maintain a relatively good quality of life. In general, CMD follow a progressive course. Even though stagnation or even improvement may be noted in the short term, progressive weakness, limb-girdle muscle wasting, joint contractures and spinal deformities increasingly affect the patient's ability to cope with everyday life [1].

CMD are genetic disorders that are mainly inherited in an autosomal recessive manner. Nevertheless, autosomal dominant inheritance may be observed, particularly in those suffering from collagen VI-related CMD. Thus, the recognition of a certain pattern of inheritance upon the analysis of a patient's pedigree may considerably shorten the list of differential diagnoses.

In any case, the tentative diagnosis of CMD should be confirmed by means of genetic analyses. To date, about 30 genes have been associated with CMD [3]. When interpreting sequencing results, it should be taken into account that certain types of CMD may be caused by mutations of different genes. On the other hand, mutations of one and the same gene may result in distinct types of CMD - a fact that further highlights the importance of a comprehensive workup and the consideration of anamnestic, clinical, and laboratory findings. Certain types of CMD, such as CMD type 1B, could not yet be related to specific mutations [5] and even if modern molecular biological techniques are applied, some patients still remain undiagnosed [3] [6] [7].

For a detailed listing of CMD and causative mutations, the interested reader is referred elsewhere [8].

In Italy, the overall prevalence of CMD has been estimated to <1 in 100,000 inhabitants [6]. A total of 336 patients have been considered in the respective study and causative mutations have been identified in 220 cases. About 40% of all patients were found to suffer from CMD with abnormal glycosylation of α-dystroglycan, about 24% had CMD with merosin deficiency, and 20% were tested positive for Collagen VI-related CMD [6]. It should be noted, though, that incidence and prevalence of certain types of CMD vary considerably between distinct geographical regions. For instance, Fukuyama muscular dystrophy, a type of CMD with insufficient glycosylation of α-dystroglycan, is one of the most common autosomal recessive disorders in Japan, but is rarely diagnosed outside this country. Its incidence in Japan may be as high as 4 in 100,000 births [9].

Dystrophin is a protein required for physiological muscle function. It is located within the sarcolemma, i.e., the membrane of striated muscle cells. It is part of the cytoskeleton and one of its main functions is to connect the muscle fiber's actin filaments with the plasma membrane. Dystrophin forms part of a multi-subunit-complex, the so-called dystrophin-associated glycoprotein complex. This complex constitutes a physical link between actin filaments and dystrophin on the inner side of the cell, and the basal lamina surrounding each muscle fiber. The majority of CMD-related genes encodes for proteins that are either part of the dystrophin-associated glycoprotein complex or affect its function. For instance, CMD type 1A is caused by mutations of the LAMA2 gene, which encodes for laminin subunit α2, which is expressed in the basement membrane, while the glycosylation of α-dystroglycan, a component of the dystrophin-associated glycoprotein complex and receptor for extracellular matrix protein, is disturbed in patients suffering from Fukuyama muscular dystrophy, muscle-eye-brain disease, or CMD types 1B, 1C, and 1D [2] [8] [10].

Affected families may benefit from genetic counseling. Genetic analyses should be conducted to identify DNA sequence anomalies in any CMD patient and to clarify whom they were inherited from. On the other hand, such tests are very useful to check whether prospective parents related to an affected individual carry any of the mutations associated with CMD and whether their future child is at risk to develop such the disease. Ideally, these studies are realized before pregnancy. However, prenatal testing is also possible [1].

No recommendations can be given to prevent CMD provoked by de novo mutations.

CMD is a general term that refers to a heterogeneous group of diseases. Those disease have a few things in common, though: They are hereditary diseases that result from DNA sequence anomalies, symptoms are apparent at birth or manifest early in life, and affected individuals are at high risks of restrictive lung disease and orthopedic deformities [11].

Before genetic analyses became widely available, the diagnosis of CMD largely relied on the results of histological examinations of biopsy samples. Consequently, distinct types of CMD were classified according to pathohistological findings [12] [13]. Meanwhile, most CMD have been associated with certain genetic defects, and the classification system of CMD has repeatedly been revised [4]. Further updates are to be expected in the future. Currently, the term CMD does at least comprise the following disorders [8]:

• CMD with abnormal glycosylation of α-dystroglycan, e.g. Fukuyama muscular dystrophy, muscle-eye-brain disease including Walker-Warburg syndrome, CMD type 1C, CMD type 1D
• CMD with merosin deficiency (CMD type 1A)
• Collagen VI-related CMD, including CMD type Ullrich and Bethlem myopathy, which are now considered to be a single entity
• CMD with integrin deficiency
• Other types of CMD, e.g., rigid spine syndrome, CMD with lamin A/C deficiency, CMD type 1B

Congenital muscular dystrophy (CMD) is a general term. It refers to distinct hereditary diseases characterized by early-onset hypotonia and muscle weakness as well as high risks of restrictive lung disease and orthopedic deformities. These disease are caused by mutations of genes that encode for proteins required for normal muscle function. First symptoms are usually apparent at birth, but may also manifest in infancy or childhood. In general, CMD follow a progressive course and cause increasing delays in motor development. Disease severity varies from patient to patient, though: Severe CMD may lead to early death, while those affected by milder forms of the disease may survive into adulthood and maintain a relatively good quality of life.

Besides progressive muscle wasting, the following may be noted in CMD patients:

• Change of facial features
• Joint contractures and/or laxity
• Spinal deformities
• Respiratory distress
• Mental retardation
• Seizures
• Malformation of ocular tissue
• Cardiac involvement

The time of onset and distribution of orthopedic deformities, the involvement of the central nervous system, the eyes and the heart may provide valuable clues as to the type of CMD. Besides clinical data, the results of histological examinations of muscle biopsy samples and genetic tests are of major importance when establishing a diagnosis.

Unfortunately, causal treatment is not available and only supportive therapy can be provided. CMD patients benefit from a multidisciplinary approach to treatment that may involve physical therapy, orthopedic devices, surgical interventions, and respiratory support, among others.

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